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Gene: ALMS1 & Disease: RP, 14 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
210129	ALMS1	c.6433C>T	p.Arg2145Ter (p.R2145X)	NM_001378454.1 M	SNV	P	4 +	4
210129	ALMS1	c.6436C>T	p.Arg2146Ter (p.R2146X)	NM_015120.4	SNV	P	4 +	4
1297102	ALMS1	c.833_834del	p.Phe278fs (p.F278fs)	NM_001378454.1 M	Del	P	3 +	3
1297102	ALMS1	c.836_837del	p.Phe279fs (p.F279fs)	NM_015120.4	Del	P	3 +	3
1297098	ALMS1	c.11646_11649dup	p.Asn3884fs (p.N3884fs)	NM_001378454.1 M	Dup	LP	2 +	2
	ALMS1	c.11648_11649insGTTA	--	NM_015120.4	Dup	LP	2 +	2
	ALMS1	c.11649_11652dup	p.Asn3885fs (p.N3885fs)	NM_015120.4	Dup	LP	2 +	2
1297106	ALMS1	c.10771del	p.Thr3591fs (p.T3591fs)	NM_001378454.1 M	Del	P	2 +	1
636149	ALMS1	c.4147dup	p.Gln1383fs (p.Q1383fs)	NM_001378454.1 M	Dup	LP	2 +	1
1297106	ALMS1	c.10772del	--	NM_015120.4	Del	P	2 +	1
1297106	ALMS1	c.10774del	p.Thr3592fs (p.T3592fs)	NM_015120.4	Del	P	2 +	1
636149	ALMS1	c.4150dup	p.Gln1384fs (p.Q1384fs)	NM_015120.4	Dup	LP	2 +	1
813152	ALMS1	c.547del	p.Glu183fs (p.E183fs)	NM_001378454.1 M	Del	P	2 +	0
813152	ALMS1	c.550del	p.Glu184fs (p.E184fs)	NM_015120.4	Del	P	2 +	0

14 Results, 20 per Page

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