List of variants in gene USH1C reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_153676.4(USH1C):c.1188A>G (p.Pro396=)	rs2240487	0.51629
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp)	rs1064074	0.48497
NM_153676.4(USH1C):c.105-16C>T	rs2041027	0.41822
NM_153676.4(USH1C):c.2490+12G>C	rs2072232	0.12422
NM_153676.4(USH1C):c.819+10G>C	rs41282936	0.01105
NM_153676.4(USH1C):c.216G>A (p.Val72=)	rs151045328	0.00002
NM_153676.4(USH1C):c.2547-1G>T	rs571304936	0.00001
NM_153676.4(USH1C):c.238dup (p.Arg80fs)	rs397515359

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