List of variants in gene USH1C reported as likely pathogenic by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_153676.4(USH1C):c.760-1G>T	rs1187887456	0.00004
NM_153676.4(USH1C):c.216G>A (p.Val72=)	rs151045328	0.00002
NM_153676.4(USH1C):c.248+1G>A	rs1482487617	0.00002
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)	rs762551629	0.00001
NM_153676.4(USH1C):c.104+1G>A	rs1287021691	0.00001
NM_153676.4(USH1C):c.2227-1G>T	rs778110397	0.00001
NM_153676.4(USH1C):c.2281-2A>G	rs921755529	0.00001
NM_153676.4(USH1C):c.2326dup (p.Ile776fs)	rs758555088	0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)	rs377145777	0.00001
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)	rs1223763703	0.00001
NM_153676.4(USH1C):c.877-1G>A	rs771279169	0.00001
NM_153676.4(USH1C):c.1020-2A>C	rs147956944
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)	rs1554960390
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)	rs1554960388
NM_153676.4(USH1C):c.1A>G (p.Met1Val)	rs1554965967
NM_153676.4(USH1C):c.2185-2A>G	rs1358056232
NM_153676.4(USH1C):c.2280+2T>C	rs1554954681
NM_153676.4(USH1C):c.2281-1G>A	rs1554954574
NM_153676.4(USH1C):c.2381-2A>G	rs1465352266
NM_153676.4(USH1C):c.2490+1G>T	rs1554953746
NM_153676.4(USH1C):c.2490+2T>C	rs1554953745
NM_153676.4(USH1C):c.2546+1G>T	rs1554953350
NM_153676.4(USH1C):c.579+1G>C	rs1283092935
NM_153676.4(USH1C):c.674+1G>A	rs775496999
NM_153676.4(USH1C):c.674+1del	rs1554961872
NM_153676.4(USH1C):c.674+2T>G	rs1298596518
NM_153676.4(USH1C):c.748_759+5del	rs1355262412
NM_153676.4(USH1C):c.819+1G>A	rs1554961152
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)	rs1064797153

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