ClinVar Miner

List of variants in gene USH1C reported as likely benign for Usher syndrome

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703 0.00789
NM_153676.4(USH1C):c.*405C>G rs11827649 0.00654
NM_005709.4(USH1C):c.1266G>A (p.Thr422=) rs35188020 0.00558
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409 0.00524
NM_153676.4(USH1C):c.*42C>T rs16934270 0.00520
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.2443C>T (p.Leu815=) rs148477093 0.00080
NM_153676.4(USH1C):c.2265C>T (p.Leu755=) rs151251262 0.00046
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=) rs377439949 0.00016
NM_153676.4(USH1C):c.2617G>A (p.Val873Met) rs201533059 0.00014
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) rs767767573 0.00008
NM_153676.4(USH1C):c.2112A>G (p.Pro704=) rs199532754 0.00006
NM_153676.4(USH1C):c.2373G>A (p.Glu791=) rs746011575 0.00006
NM_153676.4(USH1C):c.1548G>A (p.Pro516=) rs780428813 0.00003
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247 0.00003
NM_153676.4(USH1C):c.2418C>T (p.Asn806=) rs397517876 0.00002
NM_005709.4(USH1C):c.1236C>T (p.Leu412=) rs755834769 0.00001
NM_153676.4(USH1C):c.*131G>C rs550402400 0.00001
NM_153676.4(USH1C):c.1531-11A>G rs397517872 0.00001
NM_153676.4(USH1C):c.2400C>T (p.Asp800=) rs139787873 0.00001
NM_153676.4(USH1C):c.2547-1G>T rs571304936 0.00001
NM_153676.4(USH1C):c.582C>T (p.Gly194=) rs397517882 0.00001
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu) rs143923730
NM_153676.4(USH1C):c.135C>T (p.Asp45=) rs140319839
NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter) rs1554956913
NM_153676.4(USH1C):c.1840del (p.Gln614fs) rs1554956916
NM_153676.4(USH1C):c.2655+12G>A rs727504552

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