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Gene: TMC1 & Disease: DFNA36, 72 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
504715	TMC1	c.236+1G>A	--	NM_138691.3 M	SNV	P	4 +	9
4102	TMC1	c.1714G>A	p.Asp572Asn (p.D572N)	NM_138691.3 M	SNV	P	2 +	6
1328187	TMC1	c.1334G>A	p.Arg445His (p.R445H)	NM_138691.3 M	SNV	P	1 +	5
47864	TMC1	c.1763+3A>G	--	NM_138691.3 M	SNV	P	3 +	4
179070	TMC1	c.1333C>T	p.Arg445Cys (p.R445C)	NM_138691.3 M	SNV	P	7 +	4
4105	TMC1	c.1714G>C	p.Asp572His (p.D572H)	NM_138691.3 M	SNV	P	1 +	1
417922	TMC1	c.624C>A	p.Ser208Arg (p.S208R)	NM_138691.3 M	SNV	VUS	2 +	1
2443844	TMC1	c.1627G>A	p.Asp543Asn (p.D543N)	NM_138691.3 M	SNV	P	1 +	1
1303251	TMC1	c.1312G>A	p.Ala438Thr (p.A438T)	NM_138691.3 M	SNV	VUS	1 +	1
47860	TMC1	c.1457T>C	p.Met486Thr (p.M486T)	NM_138691.3 M	SNV	LB	2 +	1
47869	TMC1	c.241G>A	p.Glu81Lys (p.E81K)	NM_138691.3 M	SNV	B	2 +	1
47874	TMC1	c.45C>T	p.Asp15= (p.D15=)	NM_138691.3 M	SNV	B	2 +	1
546162	TMC1	c.373A>C	p.Lys125Gln (p.K125Q)	NM_138691.3 M	SNV	VUS	2 +	1
183668	TMC1	c.1253T>A	p.Met418Lys (p.M418K)	NM_138691.3 M	SNV	P	1 +	1
1895419	TMC1	c.1256T>C	p.Phe419Ser (p.F419S)	NM_138691.3 M	SNV	VUS	1 +	1
286752	TMC1	c.924C>G	p.Asp308Glu (p.D308E)	NM_138691.3 M	SNV	LB	2 +	0
1333340	TMC1	c.1975C>A	p.Pro659Thr (p.P659T)	NM_138691.3 M	SNV	VUS	1 +	0
417923	TMC1	c.938T>C	p.Phe313Ser (p.F313S)	NM_138691.3 M	SNV	VUS	2 +	0
178545	TMC1	c.1263A>G	p.Pro421= (p.P421=)	NM_138691.3 M	SNV	LB	2 +	0
913799	TMC1	c.-481T>C	--	NM_138691.3 M	SNV	VUS	2 +	0

72 Results, 20 per Page

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