ClinVar Miner

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

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Gene type:
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Total variants: 12
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HGVS dbSNP
NC_000011.9:g.17547892_17547893insC
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.104+1G>A rs1287021691
NM_153676.4(USH1C):c.1085+1G>C
NM_153676.4(USH1C):c.1211-1187_1211-1163del
NM_153676.4(USH1C):c.2226+2T>C rs1554954858
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.387+1G>C
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.820-2A>T
NM_153676.4(USH1C):c.876+2T>C

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