ClinVar Miner

List of variants in gene C1S reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 303
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HGVS dbSNP gnomAD frequency
NM_001734.5(C1S):c.100A>G (p.Ser34Gly) rs148105120 0.00043
NM_001734.5(C1S):c.680C>T (p.Ala227Val) rs139443782 0.00032
NM_001734.5(C1S):c.1236G>C (p.Glu412Asp) rs199547819 0.00025
NM_001734.5(C1S):c.1114G>T (p.Asp372Tyr) rs201750214 0.00020
NM_001734.5(C1S):c.1600C>T (p.Arg534Trp) rs121909582 0.00020
NM_001734.5(C1S):c.1742G>A (p.Arg581His) rs150394565 0.00010
NM_001734.5(C1S):c.620G>A (p.Arg207Gln) rs140368637 0.00010
NM_001734.5(C1S):c.1079G>T (p.Gly360Val) rs143619931 0.00009
NM_001734.5(C1S):c.213+4T>C rs782026056 0.00009
NM_001734.5(C1S):c.1147C>T (p.Arg383Cys) rs782776907 0.00008
NM_001734.5(C1S):c.656G>A (p.Arg219Gln) rs147341600 0.00006
NM_001734.5(C1S):c.1165C>A (p.Pro389Thr) rs782725964 0.00004
NM_001734.5(C1S):c.1247C>T (p.Pro416Leu) rs782291560 0.00004
NM_001734.5(C1S):c.1999C>T (p.Arg667Trp) rs377093428 0.00004
NM_001734.5(C1S):c.394A>G (p.Ile132Val) rs1198867920 0.00004
NM_001734.5(C1S):c.551T>C (p.Ile184Thr) rs782541591 0.00004
NM_001734.5(C1S):c.613C>G (p.Gln205Glu) rs760913159 0.00004
NM_001734.5(C1S):c.692C>T (p.Ala231Val) rs781863865 0.00004
NM_001734.5(C1S):c.991C>T (p.Arg331Cys) rs140488585 0.00004
NM_001734.5(C1S):c.1177A>G (p.Met393Val) rs782739530 0.00003
NM_001734.5(C1S):c.1733G>A (p.Arg578His) rs145759514 0.00003
NM_001734.5(C1S):c.347A>G (p.Asn116Ser) rs782390414 0.00003
NM_001734.5(C1S):c.733C>T (p.Arg245Trp) rs147971272 0.00003
NM_001734.5(C1S):c.1415C>T (p.Thr472Met) rs782089371 0.00002
NM_001734.5(C1S):c.1633G>A (p.Val545Ile) rs782412161 0.00002
NM_001734.5(C1S):c.1658C>T (p.Thr553Ile) rs782043980 0.00002
NM_001734.5(C1S):c.2000G>A (p.Arg667Gln) rs782101819 0.00002
NM_001734.5(C1S):c.578C>T (p.Pro193Leu) rs199916072 0.00002
NM_001734.5(C1S):c.619C>T (p.Arg207Trp) rs781922815 0.00002
NM_001734.5(C1S):c.721G>T (p.Val241Phe) rs781797472 0.00002
NM_001734.5(C1S):c.758A>G (p.His253Arg) rs1947167978 0.00002
NM_001734.5(C1S):c.910T>C (p.Trp304Arg) rs199728575 0.00002
NM_001734.5(C1S):c.1139C>T (p.Ser380Phe) rs782329906 0.00001
NM_001734.5(C1S):c.1402T>C (p.Tyr468His) rs142929874 0.00001
NM_001734.5(C1S):c.1486C>T (p.Arg496Trp) rs782400903 0.00001
NM_001734.5(C1S):c.1741C>T (p.Arg581Cys) rs373197181 0.00001
NM_001734.5(C1S):c.2007G>T (p.Lys669Asn) rs143180187 0.00001
NM_001734.5(C1S):c.204C>G (p.Asp68Glu) rs782196813 0.00001
NM_001734.5(C1S):c.2057G>A (p.Arg686His) rs782484390 0.00001
NM_001734.5(C1S):c.424C>A (p.Pro142Thr) rs782542532 0.00001
NM_001734.5(C1S):c.514G>A (p.Gly172Arg) rs375308014 0.00001
NM_001734.5(C1S):c.56T>C (p.Met19Thr) rs782622054 0.00001
NM_001734.5(C1S):c.57G>A (p.Met19Ile) rs1217725213 0.00001
NM_001734.5(C1S):c.62G>A (p.Gly21Glu) rs1364270858 0.00001
NM_001734.5(C1S):c.650C>A (p.Thr217Asn) rs782489860 0.00001
NM_001734.5(C1S):c.694G>C (p.Gly232Arg) rs782586449 0.00001
NM_001734.5(C1S):c.717+4C>T rs782020836 0.00001
NM_001734.5(C1S):c.856C>T (p.Arg286Cys) rs781853358 0.00001
NM_001734.5(C1S):c.857G>A (p.Arg286His) rs782488121 0.00001
NC_000012.11:g.(?_7169217)_(7175095_?)del
NM_001734.5(C1S):c.1007C>T (p.Ser336Phe)
NM_001734.5(C1S):c.1016C>T (p.Ser339Leu)
NM_001734.5(C1S):c.1033G>A (p.Gly345Arg)
NM_001734.5(C1S):c.1037A>G (p.Lys346Arg)
NM_001734.5(C1S):c.1045A>C (p.Asn349His)
NM_001734.5(C1S):c.1046A>C (p.Asn349Thr)
NM_001734.5(C1S):c.105G>T (p.Glu35Asp)
NM_001734.5(C1S):c.1066+5G>A
NM_001734.5(C1S):c.1066C>T (p.Pro356Ser)
NM_001734.5(C1S):c.1067-9G>T
NM_001734.5(C1S):c.1067C>T (p.Pro356Leu) rs2135727012
NM_001734.5(C1S):c.106G>C (p.Val36Leu) rs2135721100
NM_001734.5(C1S):c.1082T>A (p.Ile361Asn)
NM_001734.5(C1S):c.1093A>G (p.Ile365Val)
NM_001734.5(C1S):c.1094T>C (p.Ile365Thr)
NM_001734.5(C1S):c.10A>G (p.Ile4Val)
NM_001734.5(C1S):c.1124G>A (p.Ser375Asn)
NM_001734.5(C1S):c.1134T>G (p.Phe378Leu)
NM_001734.5(C1S):c.1159G>C (p.Glu387Gln)
NM_001734.5(C1S):c.1171TAC[1] (p.Tyr392del)
NM_001734.5(C1S):c.1175A>G (p.Tyr392Cys)
NM_001734.5(C1S):c.1178T>C (p.Met393Thr) rs2135727184
NM_001734.5(C1S):c.1181A>T (p.Glu394Val)
NM_001734.5(C1S):c.1186G>A (p.Gly396Arg)
NM_001734.5(C1S):c.1195_1195+2del rs782284071
NM_001734.5(C1S):c.1198G>A (p.Glu400Lys)
NM_001734.5(C1S):c.1198G>C (p.Glu400Gln) rs150549869
NM_001734.5(C1S):c.1202A>G (p.Tyr401Cys)
NM_001734.5(C1S):c.1214G>A (p.Gly405Asp)
NM_001734.5(C1S):c.1223G>A (p.Ser408Asn)
NM_001734.5(C1S):c.1223G>C (p.Ser408Thr)
NM_001734.5(C1S):c.1237G>A (p.Val413Met) rs782634441
NM_001734.5(C1S):c.1238T>G (p.Val413Gly)
NM_001734.5(C1S):c.1259A>G (p.Lys420Arg)
NM_001734.5(C1S):c.1270+6G>A
NM_001734.5(C1S):c.1271T>A (p.Val424Asp)
NM_001734.5(C1S):c.1283C>T (p.Pro428Leu)
NM_001734.5(C1S):c.1306C>G (p.Gln436Glu) rs2135729357
NM_001734.5(C1S):c.1312A>C (p.Ile438Leu)
NM_001734.5(C1S):c.1312A>G (p.Ile438Val) rs1555162900
NM_001734.5(C1S):c.1327G>A (p.Asp443Asn)
NM_001734.5(C1S):c.1333G>T (p.Asp445Tyr)
NM_001734.5(C1S):c.1347C>A (p.Phe449Leu)
NM_001734.5(C1S):c.1360T>G (p.Phe454Val)
NM_001734.5(C1S):c.1365T>G (p.Phe455Leu)
NM_001734.5(C1S):c.1375T>C (p.Trp459Arg)
NM_001734.5(C1S):c.1388C>T (p.Ala463Val)
NM_001734.5(C1S):c.1393A>G (p.Ile465Val)
NM_001734.5(C1S):c.1401G>C (p.Glu467Asp)
NM_001734.5(C1S):c.1424A>G (p.His475Arg)
NM_001734.5(C1S):c.1427T>C (p.Val476Ala)
NM_001734.5(C1S):c.1429G>A (p.Val477Met)
NM_001734.5(C1S):c.1435G>A (p.Gly479Arg)
NM_001734.5(C1S):c.1438A>G (p.Asn480Asp)
NM_001734.5(C1S):c.1441A>G (p.Arg481Gly)
NM_001734.5(C1S):c.1455G>A (p.Met485Ile) rs1937801788
NM_001734.5(C1S):c.1457A>T (p.Tyr486Phe)
NM_001734.5(C1S):c.145G>A (p.Gly49Arg)
NM_001734.5(C1S):c.1466C>G (p.Ser489Cys)
NM_001734.5(C1S):c.1466C>T (p.Ser489Phe) rs2135729794
NM_001734.5(C1S):c.1484C>T (p.Ser495Leu)
NM_001734.5(C1S):c.1487G>A (p.Arg496Gln)
NM_001734.5(C1S):c.1492G>T (p.Ala498Ser)
NM_001734.5(C1S):c.1493C>A (p.Ala498Glu)
NM_001734.5(C1S):c.1510A>G (p.Thr504Ala)
NM_001734.5(C1S):c.1513C>A (p.Pro505Thr) rs1591582245
NM_001734.5(C1S):c.1514C>T (p.Pro505Leu)
NM_001734.5(C1S):c.1519C>A (p.His507Asn)
NM_001734.5(C1S):c.1522G>A (p.Val508Met) rs1555162967
NM_001734.5(C1S):c.1531C>T (p.His511Tyr)
NM_001734.5(C1S):c.1535C>T (p.Pro512Leu)
NM_001734.5(C1S):c.1543A>G (p.Lys515Glu)
NM_001734.5(C1S):c.1549C>A (p.Leu517Met)
NM_001734.5(C1S):c.1564G>A (p.Gly522Arg)
NM_001734.5(C1S):c.1574A>G (p.Asn525Ser)
NM_001734.5(C1S):c.157T>C (p.Tyr53His)
NM_001734.5(C1S):c.1595T>G (p.Leu532Arg)
NM_001734.5(C1S):c.1597G>T (p.Val533Leu)
NM_001734.5(C1S):c.1601G>A (p.Arg534Gln)
NM_001734.5(C1S):c.1613C>T (p.Pro538Leu)
NM_001734.5(C1S):c.1623G>A (p.Met541Ile)
NM_001734.5(C1S):c.1623G>T (p.Met541Ile)
NM_001734.5(C1S):c.163A>G (p.Thr55Ala)
NM_001734.5(C1S):c.164C>A (p.Thr55Asn)
NM_001734.5(C1S):c.1652C>T (p.Pro551Leu)
NM_001734.5(C1S):c.1666G>A (p.Asp556Asn)
NM_001734.5(C1S):c.1666G>T (p.Asp556Tyr) rs781932595
NM_001734.5(C1S):c.1673A>G (p.Asn558Ser)
NM_001734.5(C1S):c.1675C>A (p.Leu559Ile)
NM_001734.5(C1S):c.1676T>C (p.Leu559Pro)
NM_001734.5(C1S):c.1678A>G (p.Met560Val)
NM_001734.5(C1S):c.1682A>T (p.Asp561Val) rs781892037
NM_001734.5(C1S):c.1688A>G (p.Asp563Gly)
NM_001734.5(C1S):c.1712G>A (p.Gly571Asp)
NM_001734.5(C1S):c.1715G>A (p.Arg572Gln)
NM_001734.5(C1S):c.1715G>T (p.Arg572Leu)
NM_001734.5(C1S):c.1721A>G (p.Glu574Gly)
NM_001734.5(C1S):c.1732C>T (p.Arg578Cys)
NM_001734.5(C1S):c.1751C>T (p.Ala584Val)
NM_001734.5(C1S):c.1753G>A (p.Ala585Thr)
NM_001734.5(C1S):c.1754C>T (p.Ala585Val)
NM_001734.5(C1S):c.1761A>T (p.Leu587Phe)
NM_001734.5(C1S):c.176T>C (p.Ile59Thr)
NM_001734.5(C1S):c.1789G>C (p.Glu597Gln) rs2135730572
NM_001734.5(C1S):c.1795A>G (p.Lys599Glu)
NM_001734.5(C1S):c.1822G>C (p.Glu608Gln)
NM_001734.5(C1S):c.1824G>C (p.Glu608Asp) rs138087323
NM_001734.5(C1S):c.1829A>G (p.Tyr610Cys)
NM_001734.5(C1S):c.1829A>T (p.Tyr610Phe)
NM_001734.5(C1S):c.1836dup (p.Thr613fs)
NM_001734.5(C1S):c.1837A>C (p.Thr613Pro) rs1937820209
NM_001734.5(C1S):c.1837A>T (p.Thr613Ser) rs1937820209
NM_001734.5(C1S):c.1838C>A (p.Thr613Asn)
NM_001734.5(C1S):c.1846A>T (p.Met616Leu)
NM_001734.5(C1S):c.1849A>T (p.Ile617Phe)
NM_001734.5(C1S):c.1865dup (p.Lys623fs)
NM_001734.5(C1S):c.1871G>T (p.Gly624Val)
NM_001734.5(C1S):c.1874T>C (p.Met625Thr) rs2135730777
NM_001734.5(C1S):c.1886A>C (p.Lys629Thr)
NM_001734.5(C1S):c.188A>T (p.Glu63Val)
NM_001734.5(C1S):c.1891G>T (p.Asp631Tyr)
NM_001734.5(C1S):c.1917G>C (p.Gln639His)
NM_001734.5(C1S):c.1919A>T (p.Asp640Val)
NM_001734.5(C1S):c.1923dup (p.Asn642fs)
NM_001734.5(C1S):c.1929C>A (p.Asp643Glu)
NM_001734.5(C1S):c.1934C>A (p.Thr645Asn)
NM_001734.5(C1S):c.1939T>G (p.Phe647Val)
NM_001734.5(C1S):c.1945G>A (p.Ala649Thr)
NM_001734.5(C1S):c.1955T>G (p.Leu652Arg)
NM_001734.5(C1S):c.1976G>A (p.Cys659Tyr)
NM_001734.5(C1S):c.197C>T (p.Ala66Val)
NM_001734.5(C1S):c.2002G>C (p.Val668Leu)
NM_001734.5(C1S):c.2003T>C (p.Val668Ala)
NM_001734.5(C1S):c.200A>G (p.Tyr67Cys)
NM_001734.5(C1S):c.2024del (p.Ile675fs)
NM_001734.5(C1S):c.2032A>G (p.Thr678Ala)
NM_001734.5(C1S):c.2033C>T (p.Thr678Ile) rs1555163132
NM_001734.5(C1S):c.2047A>G (p.Ser683Gly)
NM_001734.5(C1S):c.2053C>A (p.Pro685Thr) rs2135731141
NM_001734.5(C1S):c.2054C>G (p.Pro685Arg)
NM_001734.5(C1S):c.2056C>T (p.Arg686Cys)
NM_001734.5(C1S):c.2056dup (p.Arg686fs) rs1565625392
NM_001734.5(C1S):c.2057G>T (p.Arg686Leu)
NM_001734.5(C1S):c.213G>A (p.Gln71=)
NM_001734.5(C1S):c.214-7_214-3del
NM_001734.5(C1S):c.224G>A (p.Gly75Glu)
NM_001734.5(C1S):c.230C>T (p.Thr77Ile)
NM_001734.5(C1S):c.251G>A (p.Gly84Glu)
NM_001734.5(C1S):c.259A>T (p.Ser87Cys)
NM_001734.5(C1S):c.25C>T (p.Leu9Phe)
NM_001734.5(C1S):c.260G>A (p.Ser87Asn)
NM_001734.5(C1S):c.265A>G (p.Asn89Asp)
NM_001734.5(C1S):c.268A>T (p.Asn90Tyr)
NM_001734.5(C1S):c.269A>G (p.Asn90Ser)
NM_001734.5(C1S):c.274C>T (p.His92Tyr) rs1555161482
NM_001734.5(C1S):c.283A>G (p.Ile95Val)
NM_001734.5(C1S):c.294G>T (p.Glu98Asp)
NM_001734.5(C1S):c.31_32delinsTT (p.Ala11Leu) rs2135720969
NM_001734.5(C1S):c.344C>T (p.Ser115Phe)
NM_001734.5(C1S):c.346A>G (p.Asn116Asp)
NM_001734.5(C1S):c.355C>T (p.Arg119Cys)
NM_001734.5(C1S):c.362C>T (p.Thr121Met)
NM_001734.5(C1S):c.370G>A (p.Ala124Thr)
NM_001734.5(C1S):c.379T>G (p.Tyr127Asp)
NM_001734.5(C1S):c.37G>T (p.Val13Phe)
NM_001734.5(C1S):c.380A>G (p.Tyr127Cys)
NM_001734.5(C1S):c.385G>T (p.Ala129Ser)
NM_001734.5(C1S):c.386C>T (p.Ala129Val)
NM_001734.5(C1S):c.389C>T (p.Thr130Ile)
NM_001734.5(C1S):c.392-5T>C
NM_001734.5(C1S):c.407C>T (p.Thr136Ile)
NM_001734.5(C1S):c.40T>C (p.Tyr14His)
NM_001734.5(C1S):c.415G>A (p.Val139Ile)
NM_001734.5(C1S):c.415G>T (p.Val139Leu)
NM_001734.5(C1S):c.448T>C (p.Phe150Leu)
NM_001734.5(C1S):c.451A>C (p.Ile151Leu)
NM_001734.5(C1S):c.458G>A (p.Gly153Asp)
NM_001734.5(C1S):c.470C>T (p.Ser157Phe)
NM_001734.5(C1S):c.476C>T (p.Pro159Leu) rs1947142392
NM_001734.5(C1S):c.479C>G (p.Pro160Arg) rs1400068569
NM_001734.5(C1S):c.479C>T (p.Pro160Leu) rs1400068569
NM_001734.5(C1S):c.493C>T (p.His165Tyr)
NM_001734.5(C1S):c.497A>G (p.Asp166Gly)
NM_001734.5(C1S):c.5+5G>A
NM_001734.5(C1S):c.507G>C (p.Lys169Asn)
NM_001734.5(C1S):c.517+6C>G
NM_001734.5(C1S):c.530G>A (p.Gly177Glu)
NM_001734.5(C1S):c.540C>G (p.Phe180Leu)
NM_001734.5(C1S):c.542C>T (p.Thr181Ile)
NM_001734.5(C1S):c.55A>G (p.Met19Val)
NM_001734.5(C1S):c.561T>G (p.Ile187Met)
NM_001734.5(C1S):c.572A>G (p.Asn191Ser)
NM_001734.5(C1S):c.581A>G (p.Lys194Arg)
NM_001734.5(C1S):c.589C>G (p.Pro197Ala)
NM_001734.5(C1S):c.653T>C (p.Leu218Ser)
NM_001734.5(C1S):c.655C>T (p.Arg219Trp)
NM_001734.5(C1S):c.658A>G (p.Arg220Gly) rs2135724227
NM_001734.5(C1S):c.664G>T (p.Asp222Tyr)
NM_001734.5(C1S):c.683C>T (p.Ala228Val)
NM_001734.5(C1S):c.689C>T (p.Ser230Leu)
NM_001734.5(C1S):c.692C>G (p.Ala231Gly)
NM_001734.5(C1S):c.709A>G (p.Ser237Gly)
NM_001734.5(C1S):c.715G>C (p.Val239Leu) rs782437883
NM_001734.5(C1S):c.717+5G>A
NM_001734.5(C1S):c.717+6T>A
NM_001734.5(C1S):c.718-19A>T
NM_001734.5(C1S):c.727G>A (p.Gly243Arg)
NM_001734.5(C1S):c.748T>C (p.Tyr250His)
NM_001734.5(C1S):c.767C>T (p.Pro256Leu)
NM_001734.5(C1S):c.76C>T (p.Pro26Ser)
NM_001734.5(C1S):c.772C>T (p.Pro258Ser)
NM_001734.5(C1S):c.794G>A (p.Ser265Asn)
NM_001734.5(C1S):c.797A>G (p.Asn266Ser)
NM_001734.5(C1S):c.806A>G (p.Asp269Gly)
NM_001734.5(C1S):c.80A>G (p.Asn27Ser)
NM_001734.5(C1S):c.810C>A (p.Ile270=)
NM_001734.5(C1S):c.811A>G (p.Ile271Val)
NM_001734.5(C1S):c.816C>A (p.Phe272Leu) rs2135725083
NM_001734.5(C1S):c.823G>T (p.Asp275Tyr)
NM_001734.5(C1S):c.829A>G (p.Thr277Ala)
NM_001734.5(C1S):c.830C>T (p.Thr277Ile) rs1947169973
NM_001734.5(C1S):c.834G>A (p.Gly278=)
NM_001734.5(C1S):c.83A>C (p.Tyr28Ser)
NM_001734.5(C1S):c.843G>T (p.Lys281Asn)
NM_001734.5(C1S):c.844G>A (p.Gly282Ser)
NM_001734.5(C1S):c.86C>A (p.Pro29His)
NM_001734.5(C1S):c.86C>G (p.Pro29Arg) rs915348733
NM_001734.5(C1S):c.870T>A (p.Asp290Glu)
NM_001734.5(C1S):c.871C>T (p.Pro291Ser) rs148512159
NM_001734.5(C1S):c.872-12T>G
NM_001734.5(C1S):c.878C>T (p.Pro293Leu)
NM_001734.5(C1S):c.888G>T (p.Lys296Asn)
NM_001734.5(C1S):c.88C>G (p.Gln30Glu)
NM_001734.5(C1S):c.892G>A (p.Asp298Asn)
NM_001734.5(C1S):c.893A>G (p.Asp298Gly)
NM_001734.5(C1S):c.896C>T (p.Thr299Ile)
NM_001734.5(C1S):c.898C>T (p.Pro300Ser)
NM_001734.5(C1S):c.8G>T (p.Cys3Phe)
NM_001734.5(C1S):c.902A>C (p.Asn301Thr)
NM_001734.5(C1S):c.902A>G (p.Asn301Ser) rs782630063
NM_001734.5(C1S):c.907G>A (p.Val303Ile)
NM_001734.5(C1S):c.91G>A (p.Ala31Thr)
NM_001734.5(C1S):c.925G>C (p.Ala309Pro)
NM_001734.5(C1S):c.940A>G (p.Arg314Gly)
NM_001734.5(C1S):c.941G>C (p.Arg314Thr)
NM_001734.5(C1S):c.945T>G (p.Asp315Glu)
NM_001734.5(C1S):c.987+5A>G
NM_001734.5(C1S):c.987+5del
NM_001734.5(C1S):c.989G>A (p.Gly330Glu)
NM_001734.5(C1S):c.991C>A (p.Arg331Ser)
NM_001734.5(C1S):c.992G>A (p.Arg331His)
NM_001734.5(C1S):c.992G>T (p.Arg331Leu)
NM_001734.5(C1S):c.997G>A (p.Gly333Ser) rs1555162383

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