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Gene: ADGRV1 & Disease: USH2C, 554 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
6798	ADGRV1	c.6901C>T	p.Gln2301Ter (p.Q2301X)	NM_032119.4 M	SNV	P	4 +	11
372373	ADGRV1	c.956dup	p.Asn319fs (p.N319fs)	NM_032119.4 M	Dup	P	2 +	9
802126	ADGRV1	c.13655dup	p.Asn4553fs (p.N4553fs)	NM_032119.4 M	Dup	P	1 +	9
1065641	ADGRV1	c.14972+1G>T	--	NM_032119.4 M	SNV	LP	1 +	8
1066081	ADGRV1	c.10974+1G>A	--	NM_032119.4 M	SNV	LP	1 +	8
517415	ADGRV1	c.9877C>T	p.Arg3293Ter (p.R3293X)	NM_032119.4 M	SNV	P	3 +	8
632464	ADGRV1	c.12222G>A	p.Trp4074Ter (p.W4074X)	NM_032119.4 M	SNV	P	1 +	8
143159	ADGRV1	c.15736C>T	p.Arg5246Ter (p.R5246X)	NM_032119.4 M	SNV	P	1 +	8
143160	ADGRV1	c.7006C>T	p.Arg2336Ter (p.R2336X)	NM_032119.4 M	SNV	P	2 +	8
503620	ADGRV1	c.17668_17669del	p.Met5890fs (p.M5890fs)	NM_032119.4 M	Del	P	1 +	8
503694	ADGRV1	c.17062C>T	p.Arg5688Ter (p.R5688X)	NM_032119.4 M	SNV	P	2 +	8
905879	ADGRV1	c.8287-1G>C	--	NM_032119.4 M	SNV	P	1 +	8
1185591	ADGRV1	c.12829C>T	p.Arg4277Ter (p.R4277X)	NM_032119.4 M	SNV	P	1 +	8
6801	ADGRV1	c.18732_18750del	p.Gly6243_Tyr6244insTer	NM_032119.4 M	Del	P	1 +	8
867137	ADGRV1	c.9907-1G>A	--	NM_032119.4 M	SNV	P	3 +	8
46306	ADGRV1	c.2398C>T	p.Arg800Ter (p.R800X)	NM_032119.4 M	SNV	P	3 +	7
375405	ADGRV1	c.12436C>T	p.Arg4146Ter (p.R4146X)	NM_032119.4 M	SNV	P	1 +	7
46316	ADGRV1	c.3443G>A	p.Gly1148Asp (p.G1148D)	NM_032119.4 M	SNV	LP	3 +	6
1447059	ADGRV1	c.6610C>T	p.Gln2204Ter (p.Q2204X)	NM_032119.4 M	SNV	P	1 +	5
178365	ADGRV1	c.11974G>A	p.Asp3992Asn (p.D3992N)	NM_032119.4 M	SNV	LB	1 +	5

554 Results, 20 per Page

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