ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.248+1G>A rs1482487617 0.00002
NM_005709.4(USH1C):c.1211-3_1232del rs1246699436 0.00001
NM_153676.4(USH1C):c.104+1G>A rs1287021691 0.00001
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509 0.00001
NM_153676.4(USH1C):c.759+1G>A rs968918465 0.00001
NC_000011.10:g.17526347dup rs1554961872
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.104+5G>C rs2133927984
NM_153676.4(USH1C):c.105-1G>T rs2133920848
NM_153676.4(USH1C):c.1085+1G>C rs2133870164
NM_153676.4(USH1C):c.1210+2T>C rs2133867701
NM_153676.4(USH1C):c.2185-1G>A
NM_153676.4(USH1C):c.2226+2T>C rs1554954858
NM_153676.4(USH1C):c.2280+1G>T
NM_153676.4(USH1C):c.2490+1G>A
NM_153676.4(USH1C):c.2490+1G>T rs1554953746
NM_153676.4(USH1C):c.2491-1G>C
NM_153676.4(USH1C):c.37-1G>C
NM_153676.4(USH1C):c.37-3_46del rs2133928467
NM_153676.4(USH1C):c.387+1G>A
NM_153676.4(USH1C):c.387+1G>C rs1850950786
NM_153676.4(USH1C):c.496+2T>A
NM_153676.4(USH1C):c.497-2A>C rs2133897518
NM_153676.4(USH1C):c.521+1G>A
NM_153676.4(USH1C):c.675-1G>T
NM_153676.4(USH1C):c.760-1G>C
NM_153676.4(USH1C):c.820-2A>T rs200702266
NM_153676.4(USH1C):c.876+2T>C rs2133878965
NM_153676.4(USH1C):c.877-2A>C

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