ClinVar Miner

List of variants in gene USH1C reported as likely benign by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NM_153676.4(USH1C):c.1086-13G>T rs200490320
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152
NM_153676.4(USH1C):c.1211-1188G>A rs199972595
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=) rs377439949
NM_153676.4(USH1C):c.1386G>A (p.Gln462=) rs141564204
NM_153676.4(USH1C):c.1413+13C>T rs876657623
NM_153676.4(USH1C):c.1449G>A (p.Ser483=) rs142669563
NM_153676.4(USH1C):c.1531-11A>G rs397517872
NM_153676.4(USH1C):c.1548G>A (p.Pro516=) rs780428813
NM_153676.4(USH1C):c.1548G>C (p.Pro516=) rs780428813
NM_153676.4(USH1C):c.1731G>A (p.Pro577=) rs199572804
NM_153676.4(USH1C):c.1767C>T (p.Ser589=) rs770217616
NM_153676.4(USH1C):c.1792C>T (p.Arg598Cys) rs111033520
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508
NM_153676.4(USH1C):c.1907G>A (p.Arg636His) rs138017852
NM_153676.4(USH1C):c.2004C>A (p.Pro668=) rs201586291
NM_153676.4(USH1C):c.2013+5T>C rs371038786
NM_153676.4(USH1C):c.2046C>T (p.Gly682=) rs1554955894
NM_153676.4(USH1C):c.2112A>G (p.Pro704=) rs199532754
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714
NM_153676.4(USH1C):c.2184+10T>C rs200889109
NM_153676.4(USH1C):c.2418C>T (p.Asn806=) rs397517876
NM_153676.4(USH1C):c.248+7_248+20del rs749047869
NM_153676.4(USH1C):c.2538C>T (p.Asp846=) rs143860238
NM_153676.4(USH1C):c.2568A>G (p.Val856=) rs1385487954
NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln) rs374696855
NM_153676.4(USH1C):c.2616C>T (p.Ala872=) rs141591891
NM_153676.4(USH1C):c.2617G>A (p.Val873Met) rs201533059
NM_153676.4(USH1C):c.264G>A (p.Val88=) rs397517879
NM_153676.4(USH1C):c.2655+12G>A rs727504552
NM_153676.4(USH1C):c.497-4G>A rs397517881
NM_153676.4(USH1C):c.582C>T (p.Gly194=) rs397517882
NM_153676.4(USH1C):c.587G>A (p.Arg196Gln) rs397517883
NM_153676.4(USH1C):c.66G>A (p.Glu22=) rs768165881
NM_153676.4(USH1C):c.675-4G>A rs550964012
NM_153676.4(USH1C):c.684C>T (p.Ser228=) rs149172005
NM_153676.4(USH1C):c.760-4C>T rs374167444
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849
NM_153676.4(USH1C):c.7C>A (p.Arg3=) rs876657624
NM_153676.4(USH1C):c.909G>T (p.Arg303=)
NM_153676.4(USH1C):c.921G>A (p.Ala307=) rs778447994

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