ClinVar Miner

Variants in gene USH1C with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_153676.4(USH1C):c.2014-1G>A rs150567427 0.00183
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) rs149510892 0.00134
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093 0.00080
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_153676.4(USH1C):c.360C>T (p.Gly120=) rs140869579 0.00060
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805 0.00030
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001

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