ClinVar Miner

List of variants studied for atrial standstill 1 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_005266.7(GJA5):c.-61A>G rs11552588 0.18395
NM_181703.4(GJA5):c.369C>T (p.Tyr123=) rs2232191 0.00582
NM_181703.4(GJA5):c.726G>A (p.Arg242=) rs150432230 0.00109
NM_181703.4(GJA5):c.995G>A (p.Arg332His) rs116551187 0.00037
NM_181703.4(GJA5):c.111G>A (p.Leu37=) rs138362351 0.00031
NM_181703.4(GJA5):c.13A>G (p.Ser5Gly) rs144069395 0.00025
NM_181703.4(GJA5):c.286G>T (p.Ala96Ser) rs121434557 0.00020
NM_181703.4(GJA5):c.348G>A (p.Glu116=) rs150168016 0.00019
NM_181703.4(GJA5):c.793C>T (p.Pro265Ser) rs148311482 0.00019
NM_181703.4(GJA5):c.798C>T (p.Asp266=) rs116155008 0.00014
NM_181703.4(GJA5):c.472C>T (p.Leu158=) rs782668682 0.00013
NM_181703.4(GJA5):c.973A>C (p.Asn325His) rs782592443 0.00011
NM_181703.4(GJA5):c.592G>A (p.Val198Ile) rs371086800 0.00007
NM_181703.4(GJA5):c.365C>T (p.Ser122Phe) rs781831348 0.00006
NM_181703.4(GJA5):c.199G>A (p.Asp67Asn) rs150906806 0.00005
NM_181703.4(GJA5):c.1068A>G (p.Leu356=) rs886045250 0.00004
NM_181703.4(GJA5):c.317G>T (p.Arg106Leu) rs367924086 0.00004
NM_181703.4(GJA5):c.377C>T (p.Pro126Leu) rs782780433 0.00004
NM_181703.4(GJA5):c.724C>T (p.Arg242Trp) rs782417838 0.00004
NM_181703.4(GJA5):c.974A>G (p.Asn325Ser) rs145523099 0.00004
NM_181703.4(GJA5):c.864C>T (p.Ala288=) rs1384966203 0.00003
NM_181703.4(GJA5):c.1016G>A (p.Ser339Asn) rs782195867 0.00002
NM_181703.4(GJA5):c.325C>T (p.Arg109Trp) rs782392307 0.00002
NM_181703.4(GJA5):c.342C>G (p.Ala114=) rs886045251 0.00002
NM_181703.4(GJA5):c.358T>C (p.Ser120Pro) rs782642890 0.00002
NM_181703.4(GJA5):c.370G>C (p.Glu124Gln) rs782428701 0.00002
NM_181703.4(GJA5):c.378G>A (p.Pro126=) rs112980895 0.00002
NM_181703.4(GJA5):c.413A>C (p.Glu138Ala) rs782730854 0.00002
NM_181703.4(GJA5):c.496G>A (p.Gly166Ser) rs782065420 0.00002
NM_181703.4(GJA5):c.787C>T (p.Pro263Ser) rs781852108 0.00002
NM_181703.4(GJA5):c.867C>T (p.Ser289=) rs782795886 0.00002
NM_181703.4(GJA5):c.994C>T (p.Arg332Cys) rs782175029 0.00002
NM_181703.4(GJA5):c.1006G>A (p.Gly336Ser) rs782650035 0.00001
NM_181703.4(GJA5):c.1024C>T (p.Arg342Ter) rs782278675 0.00001
NM_181703.4(GJA5):c.1028G>A (p.Arg343His) rs782627991 0.00001
NM_181703.4(GJA5):c.1065C>T (p.Asp355=) rs201657244 0.00001
NM_181703.4(GJA5):c.147G>A (p.Gln49=) rs1487739192 0.00001
NM_181703.4(GJA5):c.170T>G (p.Ile57Ser) rs1553227077 0.00001
NM_181703.4(GJA5):c.258C>T (p.Ser86=) rs782415947 0.00001
NM_181703.4(GJA5):c.316C>T (p.Arg106Cys) rs1553227043 0.00001
NM_181703.4(GJA5):c.353G>A (p.Arg118Gln) rs782580208 0.00001
NM_181703.4(GJA5):c.359C>G (p.Ser120Cys) rs1553227023 0.00001
NM_181703.4(GJA5):c.369_370del (p.Tyr123_Glu124delinsTer) rs782626477 0.00001
NM_181703.4(GJA5):c.430G>A (p.Ala144Thr) rs782438073 0.00001
NM_181703.4(GJA5):c.478C>T (p.Arg160Cys) rs368383054 0.00001
NM_181703.4(GJA5):c.516C>T (p.Tyr172=) rs369888327 0.00001
NM_181703.4(GJA5):c.542C>T (p.Thr181Ile) rs1553226954 0.00001
NM_181703.4(GJA5):c.593T>C (p.Val198Ala) rs782032408 0.00001
NM_181703.4(GJA5):c.725G>T (p.Arg242Leu) rs906244249 0.00001
NM_181703.4(GJA5):c.771dup (p.Val258fs) rs782700948 0.00001
NM_181703.4(GJA5):c.776A>C (p.Gln259Pro) rs782792159 0.00001
NM_181703.4(GJA5):c.790C>A (p.Pro264Thr) rs200371777 0.00001
NM_181703.4(GJA5):c.893C>G (p.Thr298Ser) rs1454021397 0.00001
NM_181703.4(GJA5):c.938T>C (p.Ile313Thr) rs782224153 0.00001
NM_181703.4(GJA5):c.953G>T (p.Gly318Val) rs782221270 0.00001
NM_181703.4(GJA5):c.977G>C (p.Gly326Ala) rs782703462 0.00001
NC_000001.10:g.(?_147230250)_(147231366_?)dup
NC_000001.10:g.(?_147230260)_(147245383_?)del
NC_000001.10:g.(?_147230260)_(147245383_?)dup
NC_000001.10:g.(?_147230270)_(147231346_?)del
NC_000001.10:g.(?_147230270)_(147231346_?)dup
NC_000001.11:g.147760632=
NM_181703.4(GJA5):c.1000C>A (p.Pro334Thr)
NM_181703.4(GJA5):c.1016G>C (p.Ser339Thr)
NM_181703.4(GJA5):c.1020C>G (p.Asp340Glu)
NM_181703.4(GJA5):c.1023G>A (p.Lys341=) rs145008952
NM_181703.4(GJA5):c.1023G>C (p.Lys341Asn)
NM_181703.4(GJA5):c.102G>A (p.Met34Ile)
NM_181703.4(GJA5):c.1030C>A (p.Leu344Ile)
NM_181703.4(GJA5):c.1034G>A (p.Ser345Asn)
NM_181703.4(GJA5):c.1035_1038del (p.Ser345fs) rs781887233
NM_181703.4(GJA5):c.1039G>C (p.Ala347Pro)
NM_181703.4(GJA5):c.1046G>A (p.Ser349Asn)
NM_181703.4(GJA5):c.105C>A (p.Leu35=)
NM_181703.4(GJA5):c.105C>T (p.Leu35=)
NM_181703.4(GJA5):c.1065C>A (p.Asp355Glu)
NM_181703.4(GJA5):c.1067T>A (p.Leu356Gln)
NM_181703.4(GJA5):c.1071A>T (p.Ser357=) rs1553226734
NM_181703.4(GJA5):c.117A>G (p.Thr39=) rs2148959468
NM_181703.4(GJA5):c.123T>A (p.Ala41=) rs2148959454
NM_181703.4(GJA5):c.138G>A (p.Gly46=) rs984101534
NM_181703.4(GJA5):c.138G>C (p.Gly46=)
NM_181703.4(GJA5):c.148G>A (p.Ala50Thr) rs782167622
NM_181703.4(GJA5):c.160T>C (p.Cys54Arg)
NM_181703.4(GJA5):c.168G>A (p.Thr56=)
NM_181703.4(GJA5):c.176C>T (p.Pro59Leu)
NM_181703.4(GJA5):c.199G>T (p.Asp67Tyr) rs150906806
NM_181703.4(GJA5):c.203A>G (p.Gln68Arg)
NM_181703.4(GJA5):c.208T>C (p.Phe70Leu)
NM_181703.4(GJA5):c.213C>T (p.Pro71=)
NM_181703.4(GJA5):c.223A>T (p.Ile75Phe) rs587777304
NM_181703.4(GJA5):c.224T>G (p.Ile75Ser)
NM_181703.4(GJA5):c.227G>A (p.Arg76His) rs2148959382
NM_181703.4(GJA5):c.229T>C (p.Tyr77His) rs1663877672
NM_181703.4(GJA5):c.232T>G (p.Trp78Gly)
NM_181703.4(GJA5):c.23del (p.Gly8fs)
NM_181703.4(GJA5):c.246C>A (p.Ile82=)
NM_181703.4(GJA5):c.248T>C (p.Ile83Thr)
NM_181703.4(GJA5):c.255C>A (p.Val85=)
NM_181703.4(GJA5):c.259A>T (p.Thr87Ser) rs1557943770
NM_181703.4(GJA5):c.261G>A (p.Thr87=)
NM_181703.4(GJA5):c.261G>T (p.Thr87=)
NM_181703.4(GJA5):c.266C>G (p.Ser89Cys)
NM_181703.4(GJA5):c.268C>T (p.Leu90=)
NM_181703.4(GJA5):c.269T>C (p.Leu90Pro)
NM_181703.4(GJA5):c.272T>C (p.Val91Ala)
NM_181703.4(GJA5):c.275A>C (p.Tyr92Ser)
NM_181703.4(GJA5):c.278T>C (p.Met93Thr) rs1663872343
NM_181703.4(GJA5):c.279_296dup (p.Thr99_Val100insGlyHisAlaMetHisThr)
NM_181703.4(GJA5):c.281del (p.Gly94fs)
NM_181703.4(GJA5):c.287C>A (p.Ala96Asp)
NM_181703.4(GJA5):c.287C>T (p.Ala96Val)
NM_181703.4(GJA5):c.295A>G (p.Thr99Ala)
NM_181703.4(GJA5):c.297T>G (p.Thr99=) rs146738543
NM_181703.4(GJA5):c.299T>G (p.Val100Gly)
NM_181703.4(GJA5):c.302G>A (p.Arg101His) rs782301284
NM_181703.4(GJA5):c.304A>C (p.Met102Leu)
NM_181703.4(GJA5):c.304A>T (p.Met102Leu) rs1285920774
NM_181703.4(GJA5):c.30C>G (p.Phe10Leu)
NM_181703.4(GJA5):c.30C>T (p.Phe10=)
NM_181703.4(GJA5):c.310G>A (p.Glu104Lys)
NM_181703.4(GJA5):c.317G>A (p.Arg106His)
NM_181703.4(GJA5):c.317G>C (p.Arg106Pro)
NM_181703.4(GJA5):c.327G>A (p.Arg109=) rs143695986
NM_181703.4(GJA5):c.347A>C (p.Glu116Ala) rs782546377
NM_181703.4(GJA5):c.351C>T (p.Val117=)
NM_181703.4(GJA5):c.352C>G (p.Arg118Gly)
NM_181703.4(GJA5):c.355G>T (p.Gly119Cys) rs2148959258
NM_181703.4(GJA5):c.356G>A (p.Gly119Asp) rs1663860097
NM_181703.4(GJA5):c.362G>A (p.Gly121Asp) rs1413935876
NM_181703.4(GJA5):c.365C>G (p.Ser122Cys) rs781831348
NM_181703.4(GJA5):c.377C>A (p.Pro126Gln)
NM_181703.4(GJA5):c.381G>A (p.Val127=)
NM_181703.4(GJA5):c.387G>A (p.Glu129=)
NM_181703.4(GJA5):c.397C>G (p.Leu133Val)
NM_181703.4(GJA5):c.399G>T (p.Leu133=)
NM_181703.4(GJA5):c.3G>A (p.Met1Ile)
NM_181703.4(GJA5):c.411G>T (p.Glu137Asp) rs200288659
NM_181703.4(GJA5):c.414A>G (p.Glu138=)
NM_181703.4(GJA5):c.415G>A (p.Gly139Arg)
NM_181703.4(GJA5):c.432C>A (p.Ala144=)
NM_181703.4(GJA5):c.433C>A (p.Leu145Ile) rs2148959187
NM_181703.4(GJA5):c.433del (p.Leu145fs) rs781802553
NM_181703.4(GJA5):c.435C>T (p.Leu145=)
NM_181703.4(GJA5):c.438G>A (p.Gln146=) rs1553226989
NM_181703.4(GJA5):c.444T>C (p.Thr148=)
NM_181703.4(GJA5):c.445C>T (p.Leu149=)
NM_181703.4(GJA5):c.447G>C (p.Leu149=) rs782002899
NM_181703.4(GJA5):c.450C>T (p.Leu150=)
NM_181703.4(GJA5):c.479G>A (p.Arg160His)
NM_181703.4(GJA5):c.479G>T (p.Arg160Leu) rs782538185
NM_181703.4(GJA5):c.481A>G (p.Thr161Ala) rs2148959150
NM_181703.4(GJA5):c.494T>C (p.Val165Ala)
NM_181703.4(GJA5):c.497G>C (p.Gly166Ala)
NM_181703.4(GJA5):c.497del (p.Gly166fs)
NM_181703.4(GJA5):c.4G>C (p.Gly2Arg) rs2148959534
NM_181703.4(GJA5):c.510C>A (p.Gly170=)
NM_181703.4(GJA5):c.513G>A (p.Gln171=) rs1571066735
NM_181703.4(GJA5):c.516C>A (p.Tyr172Ter)
NM_181703.4(GJA5):c.521T>A (p.Ile174Asn)
NM_181703.4(GJA5):c.525C>G (p.Tyr175Ter) rs149441155
NM_181703.4(GJA5):c.525C>T (p.Tyr175=)
NM_181703.4(GJA5):c.526G>A (p.Gly176Arg) rs2148959125
NM_181703.4(GJA5):c.533del (p.Phe178fs)
NM_181703.4(GJA5):c.537G>C (p.Leu179=) rs2148959118
NM_181703.4(GJA5):c.543C>T (p.Thr181=) rs1553226953
NM_181703.4(GJA5):c.544C>T (p.Leu182=) rs1553226951
NM_181703.4(GJA5):c.550G>A (p.Val184Ile)
NM_181703.4(GJA5):c.551T>A (p.Val184Asp) rs2148959108
NM_181703.4(GJA5):c.559A>C (p.Arg187=)
NM_181703.4(GJA5):c.566C>G (p.Pro189Arg)
NM_181703.4(GJA5):c.567C>G (p.Pro189=) rs2148959089
NM_181703.4(GJA5):c.576C>T (p.His192=)
NM_181703.4(GJA5):c.578C>T (p.Pro193Leu)
NM_181703.4(GJA5):c.578del (p.Pro193fs)
NM_181703.4(GJA5):c.579G>C (p.Pro193=)
NM_181703.4(GJA5):c.57C>G (p.Thr19=)
NM_181703.4(GJA5):c.584A>G (p.Asn195Ser)
NM_181703.4(GJA5):c.590A>G (p.Tyr197Cys)
NM_181703.4(GJA5):c.591C>G (p.Tyr197Ter)
NM_181703.4(GJA5):c.591C>T (p.Tyr197=)
NM_181703.4(GJA5):c.598C>T (p.Arg200Trp)
NM_181703.4(GJA5):c.607G>A (p.Glu203Lys)
NM_181703.4(GJA5):c.610A>G (p.Lys204Glu)
NM_181703.4(GJA5):c.618C>G (p.Val206=) rs2148959048
NM_181703.4(GJA5):c.624T>G (p.Ile208Met)
NM_181703.4(GJA5):c.625G>A (p.Val209Ile)
NM_181703.4(GJA5):c.635T>C (p.Leu212Pro)
NM_181703.4(GJA5):c.638C>A (p.Ala213Asp)
NM_181703.4(GJA5):c.639T>C (p.Ala213=)
NM_181703.4(GJA5):c.645T>A (p.Ala215=)
NM_181703.4(GJA5):c.646G>A (p.Ala216Thr)
NM_181703.4(GJA5):c.650T>C (p.Leu217Pro)
NM_181703.4(GJA5):c.658C>T (p.Leu220Phe) rs1553226912
NM_181703.4(GJA5):c.665G>C (p.Ser222Thr) rs1553226908
NM_181703.4(GJA5):c.678C>G (p.Leu226=)
NM_181703.4(GJA5):c.685C>T (p.Leu229=)
NM_181703.4(GJA5):c.695AGA[1] (p.Lys233del)
NM_181703.4(GJA5):c.695del (p.Lys232fs)
NM_181703.4(GJA5):c.696G>A (p.Lys232=)
NM_181703.4(GJA5):c.700A>T (p.Ile234Phe) rs2148959007
NM_181703.4(GJA5):c.709C>T (p.Arg237Ter) rs1476854402
NM_181703.4(GJA5):c.714T>G (p.Phe238Leu)
NM_181703.4(GJA5):c.722C>G (p.Pro241Arg)
NM_181703.4(GJA5):c.727C>T (p.Gln243Ter) rs2148958988
NM_181703.4(GJA5):c.730C>A (p.His244Asn)
NM_181703.4(GJA5):c.730C>T (p.His244Tyr)
NM_181703.4(GJA5):c.738T>C (p.Ala246=) rs2148958978
NM_181703.4(GJA5):c.73T>C (p.Trp25Arg)
NM_181703.4(GJA5):c.743G>A (p.Cys248Tyr)
NM_181703.4(GJA5):c.756C>A (p.Gly252=)
NM_181703.4(GJA5):c.765G>C (p.Val255=) rs2148958937
NM_181703.4(GJA5):c.769A>G (p.Ile257Val)
NM_181703.4(GJA5):c.76C>T (p.Leu26Phe)
NM_181703.4(GJA5):c.772G>T (p.Val258Phe)
NM_181703.4(GJA5):c.777G>T (p.Gln259His)
NM_181703.4(GJA5):c.777del (p.Ser260fs)
NM_181703.4(GJA5):c.780C>T (p.Ser260=) rs1663834363
NM_181703.4(GJA5):c.789A>G (p.Pro263=)
NM_181703.4(GJA5):c.795C>T (p.Pro265=)
NM_181703.4(GJA5):c.795del (p.Asp266fs)
NM_181703.4(GJA5):c.795dup (p.Asp266fs) rs782537868
NM_181703.4(GJA5):c.810C>A (p.Cys270Ter)
NM_181703.4(GJA5):c.812T>A (p.Leu271Gln)
NM_181703.4(GJA5):c.813G>A (p.Leu271=) rs2148958892
NM_181703.4(GJA5):c.815A>C (p.Glu272Ala)
NM_181703.4(GJA5):c.816G>T (p.Glu272Asp)
NM_181703.4(GJA5):c.819T>C (p.Asn273=)
NM_181703.4(GJA5):c.81T>C (p.Thr27=)
NM_181703.4(GJA5):c.821G>A (p.Gly274Asp)
NM_181703.4(GJA5):c.823C>T (p.Pro275Ser)
NM_181703.4(GJA5):c.824C>G (p.Pro275Arg)
NM_181703.4(GJA5):c.824C>T (p.Pro275Leu)
NM_181703.4(GJA5):c.827_838del (p.Gly276_Phe280delinsVal)
NM_181703.4(GJA5):c.830G>A (p.Gly277Glu)
NM_181703.4(GJA5):c.833A>G (p.Lys278Arg) rs2148958862
NM_181703.4(GJA5):c.834del (p.Lys278fs)
NM_181703.4(GJA5):c.843T>C (p.Asn281=)
NM_181703.4(GJA5):c.860T>A (p.Met287Lys)
NM_181703.4(GJA5):c.863C>T (p.Ala288Val)
NM_181703.4(GJA5):c.870A>G (p.Gln290=)
NM_181703.4(GJA5):c.891C>T (p.Val297=)
NM_181703.4(GJA5):c.903A>G (p.Val301=) rs2148958793
NM_181703.4(GJA5):c.904C>T (p.Arg302Ter)
NM_181703.4(GJA5):c.905G>A (p.Arg302Gln) rs781925387
NM_181703.4(GJA5):c.908G>A (p.Gly303Asp)
NM_181703.4(GJA5):c.913G>A (p.Glu305Lys)
NM_181703.4(GJA5):c.920C>T (p.Thr307Ile) rs781992965
NM_181703.4(GJA5):c.923C>G (p.Pro308Arg)
NM_181703.4(GJA5):c.925G>A (p.Gly309Arg)
NM_181703.4(GJA5):c.926G>C (p.Gly309Ala)
NM_181703.4(GJA5):c.932G>C (p.Gly311Ala)
NM_181703.4(GJA5):c.939C>A (p.Ile313=)
NM_181703.4(GJA5):c.941A>G (p.Gln314Arg) rs1663823052
NM_181703.4(GJA5):c.942G>T (p.Gln314His)
NM_181703.4(GJA5):c.945T>A (p.Val315=) rs2148958748
NM_181703.4(GJA5):c.947G>A (p.Arg316His) rs369631383
NM_181703.4(GJA5):c.947G>C (p.Arg316Pro) rs369631383
NM_181703.4(GJA5):c.947G>T (p.Arg316Leu)
NM_181703.4(GJA5):c.948T>A (p.Arg316=)
NM_181703.4(GJA5):c.963T>G (p.Pro321=)
NM_181703.4(GJA5):c.975T>C (p.Asn325=)
NM_181703.4(GJA5):c.977G>A (p.Gly326Glu) rs782703462
NM_181703.4(GJA5):c.978A>C (p.Gly326=)
NM_181703.4(GJA5):c.989G>C (p.Gly330Ala)
NM_181703.4(GJA5):c.997C>T (p.Leu333Phe)

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