ClinVar Miner

List of variants in gene USH1C reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.2014-1G>A rs150567427 0.00183
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) rs146333270 0.00042
NM_153676.4(USH1C):c.1889T>C (p.Leu630Pro) rs377002861 0.00016
NM_153676.4(USH1C):c.2280+6del rs776356060 0.00016
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) rs148168494 0.00014
NM_153676.4(USH1C):c.965G>A (p.Arg322Gln) rs140424216 0.00012
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588 0.00011
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln) rs558663132 0.00011
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193 0.00009
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu) rs371856107 0.00009
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp) rs202174251 0.00008
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400 0.00007
NM_153676.4(USH1C):c.1678G>C (p.Ala560Pro) rs367952604 0.00006
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423 0.00006
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877 0.00006
NM_153676.4(USH1C):c.1234G>A (p.Asp412Asn) rs727503712 0.00005
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr) rs201104489 0.00005
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys) rs141771249 0.00005
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875 0.00004
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) rs372227474 0.00004
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) rs876658111 0.00004
NM_153676.4(USH1C):c.121G>A (p.Val41Met) rs780439529 0.00003
NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu) rs747675437 0.00003
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247 0.00003
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878 0.00003
NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala) rs200779709 0.00003
NM_153676.4(USH1C):c.908G>A (p.Arg303Gln) rs397517884 0.00003
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg) rs768207716 0.00002
NM_153676.4(USH1C):c.1211-1107C>T rs727504667 0.00001
NM_153676.4(USH1C):c.1476G>T (p.Arg492Ser) rs765918184 0.00001
NM_153676.4(USH1C):c.1516A>G (p.Asn506Asp) rs868001349 0.00001
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser) rs775363189 0.00001
NM_153676.4(USH1C):c.164G>A (p.Arg55His) rs1042393529 0.00001
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val) rs727505187 0.00001
NM_153676.4(USH1C):c.2000C>T (p.Pro667Leu) rs1157049229 0.00001
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874 0.00001
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe) rs140313023 0.00001
NM_153676.4(USH1C):c.2311G>A (p.Gly771Ser) rs727505083 0.00001
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr) rs150593932 0.00001
NM_153676.4(USH1C):c.2577C>A (p.Ser859Arg) rs199827989 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_153676.4(USH1C):c.497-3C>A rs958295779 0.00001
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934 0.00001
NM_153676.4(USH1C):c.-15G>C rs1554965975
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.127G>A (p.Val43Met) rs145500807
NM_153676.4(USH1C):c.1574T>C (p.Leu525Pro) rs727504790
NM_153676.4(USH1C):c.1576G>A (p.Ala526Thr) rs727503711
NM_153676.4(USH1C):c.1699C>T (p.Pro567Ser) rs549628785
NM_153676.4(USH1C):c.1801C>A (p.Pro601Thr) rs727503710
NM_153676.4(USH1C):c.1838C>T (p.Thr613Ile) rs146191588
NM_153676.4(USH1C):c.1944G>T (p.Glu648Asp) rs1213612823
NM_153676.4(USH1C):c.2047C>T (p.Pro683Ser) rs397517873
NM_153676.4(USH1C):c.2302C>A (p.Leu768Met) rs876658110
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly) rs774005703
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys) rs769021971
NM_153676.4(USH1C):c.2579C>T (p.Pro860Leu) rs876658112

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