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Gene: UMOD & Disease: ADTKD1, 1218 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
242346	UMOD	c.278_289delinsCCGCCTCCT	p.Val93_Gly97delinsAlaAlaSerCys	NM_003361.4 M	Indel	P	1 +	13
	UMOD	c.278_289delinsCCGCCTCCT	p.Val93_Gly97delinsAlaAlaSerCys	NM_001008389.3	Indel	P	1 +	13
	UMOD	c.377_388delinsCCGCCTCCT	p.Val126_Gly130delinsAlaAlaSerCys	NM_001278614.2	Indel	P	1 +	13
	UMOD	c.278_289delinsCCGCCTCCT	p.Val93_Gly97delinsAlaAlaSerCys	NM_001378232.1	Indel	P	1 +	13
	UMOD	c.278_289delinsCCGCCTCCT	p.Val93_Gly97delinsAlaAlaSerCys	NM_001378233.1	Indel	P	1 +	13
	UMOD	c.278_289delinsCCGCCTCCT	p.Val93_Gly97delinsAlaAlaSerCys	NM_001378234.1	Indel	P	1 +	13
	UMOD	c.278_289delinsCCGCCTCCT	p.Val93_Gly97delinsAlaAlaSerCys	NM_001378235.1	Indel	P	1 +	13
	UMOD	c.278_289delinsCCGCCTCCT	p.Val93_Gly97delinsAlaAlaSerCys	NM_001378237.1	Indel	P	1 +	13
807521	UMOD	c.317G>A	p.Cys106Tyr (p.C106Y)	NM_003361.4 M	SNV	P	1 +	10
	UMOD	c.317G>A	p.Cys106Tyr (p.C106Y)	NM_001008389.3	SNV	P	1 +	10
	UMOD	c.416G>A	p.Cys139Tyr (p.C139Y)	NM_001278614.2	SNV	P	1 +	10
	UMOD	c.317G>A	p.Cys106Tyr (p.C106Y)	NM_001378232.1	SNV	P	1 +	10
	UMOD	c.317G>A	p.Cys106Tyr (p.C106Y)	NM_001378233.1	SNV	P	1 +	10
	UMOD	c.317G>A	p.Cys106Tyr (p.C106Y)	NM_001378234.1	SNV	P	1 +	10
	UMOD	c.317G>A	p.Cys106Tyr (p.C106Y)	NM_001378235.1	SNV	P	1 +	10
	UMOD	c.317G>A	p.Cys106Tyr (p.C106Y)	NM_001378237.1	SNV	P	1 +	10
1698958	UMOD	c.115G>C	p.Ala39Pro (p.A39P)	NM_003361.4 M	SNV	VUS	1 +	6
94129	UMOD	c.317G>T	p.Cys106Phe (p.C106F)	NM_003361.4 M	SNV	P	1 +	6
12259	UMOD	c.376T>C	p.Cys126Arg (p.C126R)	NM_003361.4 M	SNV	P	1 +	6
1698958	UMOD	c.115G>C	p.Ala39Pro (p.A39P)	NM_001008389.3	SNV	VUS	1 +	6

1218 Results, 20 per Page

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