ClinVar Miner

List of variants in gene USH1C reported by Ambry Genetics

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Gene type:
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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn) rs138123405 0.00017
NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp) rs143803480 0.00016
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) rs148168494 0.00014
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849 0.00014
NM_153676.4(USH1C):c.880C>T (p.Arg294Trp) rs555152976 0.00013
NM_153676.4(USH1C):c.1199G>A (p.Arg400His) rs750721690 0.00009
NM_153676.4(USH1C):c.2312G>T (p.Gly771Val) rs763628668 0.00007
NM_153676.4(USH1C):c.361G>A (p.Gly121Ser) rs377510653 0.00007
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400 0.00007
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys) rs141771249 0.00005
NM_153676.4(USH1C):c.2246T>C (p.Met749Thr) rs370437884 0.00004
NM_153676.4(USH1C):c.2371G>A (p.Glu791Lys) rs772123405 0.00004
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) rs372227474 0.00004
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877 0.00004
NM_153676.4(USH1C):c.121G>A (p.Val41Met) rs780439529 0.00003
NM_153676.4(USH1C):c.502G>A (p.Gly168Ser) rs1032568806 0.00003
NM_153676.4(USH1C):c.844C>T (p.Arg282Cys) rs145245642 0.00002
NM_153676.4(USH1C):c.875C>G (p.Ala292Gly) rs200322793 0.00002
NM_153676.4(USH1C):c.929G>A (p.Arg310His) rs752499487 0.00002
NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn) rs977658619 0.00001
NM_153676.4(USH1C):c.1198C>T (p.Arg400Cys) rs759009035 0.00001
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe) rs140313023 0.00001
NM_153676.4(USH1C):c.2426T>C (p.Ile809Thr) rs755400861 0.00001
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878 0.00001
NM_153676.4(USH1C):c.295G>A (p.Gly99Ser) rs370054635 0.00001
NM_153676.4(USH1C):c.341T>C (p.Ile114Thr) rs767655370 0.00001
NM_153676.4(USH1C):c.527C>T (p.Pro176Leu) rs1461558857 0.00001
NM_153676.4(USH1C):c.551A>C (p.Tyr184Ser) rs113015650 0.00001
NM_153676.4(USH1C):c.601T>C (p.Ser201Pro) rs1344788007 0.00001
NM_153676.4(USH1C):c.760A>C (p.Ile254Leu) rs543985400 0.00001
NM_153676.4(USH1C):c.907C>T (p.Arg303Trp) rs749821587 0.00001
NM_005709.4(USH1C):c.1215T>G (p.Asp405Glu)
NM_005709.4(USH1C):c.1237G>A (p.Glu413Lys) rs752129544
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.1066T>C (p.Tyr356His) rs1372392561
NM_153676.4(USH1C):c.1079T>C (p.Met360Thr) rs2497143892
NM_153676.4(USH1C):c.1151T>C (p.Leu384Pro) rs1459044939
NM_153676.4(USH1C):c.140A>C (p.Lys47Thr) rs1455042541
NM_153676.4(USH1C):c.158C>G (p.Pro53Arg) rs1000780029
NM_153676.4(USH1C):c.19C>G (p.Arg7Gly) rs2497325239
NM_153676.4(USH1C):c.210C>G (p.His70Gln) rs1256576403
NM_153676.4(USH1C):c.2231C>T (p.Thr744Ile) rs2497004063
NM_153676.4(USH1C):c.2295C>G (p.Asp765Glu) rs781240730
NM_153676.4(USH1C):c.2348C>T (p.Ala783Val) rs1849423397
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly) rs774005703
NM_153676.4(USH1C):c.2401G>A (p.Glu801Lys) rs371257969
NM_153676.4(USH1C):c.2402A>G (p.Glu801Gly)
NM_153676.4(USH1C):c.2403G>T (p.Glu801Asp)
NM_153676.4(USH1C):c.2423A>C (p.Lys808Thr) rs1849310143
NM_153676.4(USH1C):c.242G>A (p.Arg81His)
NM_153676.4(USH1C):c.2480A>T (p.Asn827Ile)
NM_153676.4(USH1C):c.2489G>A (p.Gly830Glu) rs1440436514
NM_153676.4(USH1C):c.2497A>T (p.Ile833Phe)
NM_153676.4(USH1C):c.2513C>T (p.Ala838Val) rs1156833982
NM_153676.4(USH1C):c.295G>T (p.Gly99Cys) rs370054635
NM_153676.4(USH1C):c.41A>G (p.Asp14Gly)
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.502G>T (p.Gly168Cys) rs1032568806
NM_153676.4(USH1C):c.518A>G (p.Lys173Arg) rs2497189833
NM_153676.4(USH1C):c.700C>T (p.Pro234Ser) rs1565053850
NM_153676.4(USH1C):c.887T>G (p.Leu296Arg)
NM_153676.4(USH1C):c.983A>G (p.Asn328Ser) rs1229249579
NM_153676.4(USH1C):c.986A>G (p.Lys329Arg)

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