ClinVar Miner

List of variants reported as uncertain significance for Atrial standstill 1; Atrial fibrillation, familial, 11 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_181703.4(GJA5):c.793C>T (p.Pro265Ser) rs148311482 0.00021
NM_181703.4(GJA5):c.286G>T (p.Ala96Ser) rs121434557 0.00018
NM_181703.4(GJA5):c.299T>G (p.Val100Gly) rs138375318 0.00007
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.377C>T (p.Pro126Leu) rs782780433 0.00004
NM_181703.4(GJA5):c.724C>T (p.Arg242Trp) rs782417838 0.00004
NM_181703.4(GJA5):c.730C>T (p.His244Tyr) rs782110728 0.00004
NM_181703.4(GJA5):c.974A>G (p.Asn325Ser) rs145523099 0.00004
NM_181703.4(GJA5):c.275A>C (p.Tyr92Ser) rs374342167 0.00003
NM_181703.4(GJA5):c.317G>T (p.Arg106Leu) rs367924086 0.00003
NM_181703.4(GJA5):c.638C>A (p.Ala213Asp) rs1198129780 0.00003
NM_181703.4(GJA5):c.904C>T (p.Arg302Ter) rs372883419 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.358T>C (p.Ser120Pro) rs782642890 0.00002
NM_181703.4(GJA5):c.370G>C (p.Glu124Gln) rs782428701 0.00002
NM_181703.4(GJA5):c.413A>C (p.Glu138Ala) rs782730854 0.00002
NM_181703.4(GJA5):c.430G>A (p.Ala144Thr) rs782438073 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.1006G>A (p.Gly336Ser) rs782650035 0.00001
NM_181703.4(GJA5):c.1023G>C (p.Lys341Asn) rs145008952 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.1039G>C (p.Ala347Pro) rs1324379277 0.00001
NM_181703.4(GJA5):c.1065C>A (p.Asp355Glu) rs201657244 0.00001
NM_181703.4(GJA5):c.170T>G (p.Ile57Ser) rs1553227077 0.00001
NM_181703.4(GJA5):c.279_296dup (p.Thr99_Val100insGlyHisAlaMetHisThr) rs782254259 0.00001
NM_181703.4(GJA5):c.304A>C (p.Met102Leu) rs1285920774 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.478C>T (p.Arg160Cys) rs368383054 0.00001
NM_181703.4(GJA5):c.497G>C (p.Gly166Ala) rs1245381241 0.00001
NM_181703.4(GJA5):c.521T>A (p.Ile174Asn) rs782021732 0.00001
NM_181703.4(GJA5):c.542C>T (p.Thr181Ile) rs1553226954 0.00001
NM_181703.4(GJA5):c.566C>G (p.Pro189Arg) rs782415192 0.00001
NM_181703.4(GJA5):c.593T>C (p.Val198Ala) rs782032408 0.00001
NM_181703.4(GJA5):c.607G>A (p.Glu203Lys) rs1461177850 0.00001
NM_181703.4(GJA5):c.650T>C (p.Leu217Pro) rs1663842091 0.00001
NM_181703.4(GJA5):c.725G>T (p.Arg242Leu) rs906244249 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.821G>A (p.Gly274Asp) rs370225026 0.00001
NM_181703.4(GJA5):c.823C>T (p.Pro275Ser) rs782523810 0.00001
NM_181703.4(GJA5):c.824C>G (p.Pro275Arg) rs1386910689 0.00001
NM_181703.4(GJA5):c.863C>T (p.Ala288Val) rs1553226824 0.00001
NM_181703.4(GJA5):c.893C>G (p.Thr298Ser) rs1454021397 0.00001
NM_181703.4(GJA5):c.913G>A (p.Glu305Lys) rs782422906 0.00001
NM_181703.4(GJA5):c.932G>C (p.Gly311Ala) rs1364547914 0.00001
NM_181703.4(GJA5):c.938T>C (p.Ile313Thr) rs782224153 0.00001
NM_181703.4(GJA5):c.942G>T (p.Gln314His) rs782450132 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_?)dup
NM_181703.4(GJA5):c.1000C>A (p.Pro334Thr) rs2524607914
NM_181703.4(GJA5):c.1016G>C (p.Ser339Thr)
NM_181703.4(GJA5):c.1020C>G (p.Asp340Glu) rs781918017
NM_181703.4(GJA5):c.102G>A (p.Met34Ile)
NM_181703.4(GJA5):c.1030C>A (p.Leu344Ile) rs2524607800
NM_181703.4(GJA5):c.1034G>A (p.Ser345Asn) rs2524607795
NM_181703.4(GJA5):c.1035_1038del (p.Ser345fs) rs781887233
NM_181703.4(GJA5):c.1046G>A (p.Ser349Asn) rs1553226738
NM_181703.4(GJA5):c.1067T>A (p.Leu356Gln)
NM_181703.4(GJA5):c.148G>A (p.Ala50Thr) rs782167622
NM_181703.4(GJA5):c.160T>C (p.Cys54Arg) rs1216121818
NM_181703.4(GJA5):c.176C>T (p.Pro59Leu) rs2524612113
NM_181703.4(GJA5):c.199G>T (p.Asp67Tyr) rs150906806
NM_181703.4(GJA5):c.203A>G (p.Gln68Arg) rs782334211
NM_181703.4(GJA5):c.208T>C (p.Phe70Leu) rs2524611974
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.248T>C (p.Ile83Thr) rs1553227059
NM_181703.4(GJA5):c.259A>T (p.Thr87Ser) rs1557943770
NM_181703.4(GJA5):c.266C>G (p.Ser89Cys) rs2524611740
NM_181703.4(GJA5):c.269T>C (p.Leu90Pro) rs2524611734
NM_181703.4(GJA5):c.272T>C (p.Val91Ala) rs1018708274
NM_181703.4(GJA5):c.278T>C (p.Met93Thr) rs1663872343
NM_181703.4(GJA5):c.281del (p.Gly94fs) rs2524611670
NM_181703.4(GJA5):c.287C>A (p.Ala96Asp) rs2524611624
NM_181703.4(GJA5):c.287C>T (p.Ala96Val) rs2524611624
NM_181703.4(GJA5):c.295A>G (p.Thr99Ala)
NM_181703.4(GJA5):c.302G>A (p.Arg101His) rs782301284
NM_181703.4(GJA5):c.304A>T (p.Met102Leu) rs1285920774
NM_181703.4(GJA5):c.30C>G (p.Phe10Leu)
NM_181703.4(GJA5):c.310G>A (p.Glu104Lys)
NM_181703.4(GJA5):c.317G>A (p.Arg106His) rs367924086
NM_181703.4(GJA5):c.317G>C (p.Arg106Pro)
NM_181703.4(GJA5):c.347A>C (p.Glu116Ala) rs782546377
NM_181703.4(GJA5):c.352C>G (p.Arg118Gly) rs1553227026
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) rs782780433
NM_181703.4(GJA5):c.397C>G (p.Leu133Val)
NM_181703.4(GJA5):c.411G>T (p.Glu137Asp) rs200288659
NM_181703.4(GJA5):c.415G>A (p.Gly139Arg) rs782082372
NM_181703.4(GJA5):c.433C>A (p.Leu145Ile) rs2148959187
NM_181703.4(GJA5):c.433del (p.Leu145fs) rs781802553
NM_181703.4(GJA5):c.479G>A (p.Arg160His) rs782538185
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.497del (p.Gly166fs) rs1663850745
NM_181703.4(GJA5):c.4G>C (p.Gly2Arg) rs2148959534
NM_181703.4(GJA5):c.516C>A (p.Tyr172Ter) rs369888327
NM_181703.4(GJA5):c.525C>G (p.Tyr175Ter) rs149441155
NM_181703.4(GJA5):c.526G>A (p.Gly176Arg) rs2148959125
NM_181703.4(GJA5):c.533del (p.Phe178fs) rs2524610275
NM_181703.4(GJA5):c.550G>A (p.Val184Ile) rs2524610210
NM_181703.4(GJA5):c.551T>A (p.Val184Asp) rs2148959108
NM_181703.4(GJA5):c.578C>T (p.Pro193Leu) rs985942801
NM_181703.4(GJA5):c.578del (p.Pro193fs) rs2524610067
NM_181703.4(GJA5):c.584A>G (p.Asn195Ser) rs1663845807
NM_181703.4(GJA5):c.590A>G (p.Tyr197Cys) rs2524610006
NM_181703.4(GJA5):c.591C>G (p.Tyr197Ter)
NM_181703.4(GJA5):c.598C>T (p.Arg200Trp) rs1663844751
NM_181703.4(GJA5):c.610A>G (p.Lys204Glu) rs1553226924
NM_181703.4(GJA5):c.624T>G (p.Ile208Met) rs2524609876
NM_181703.4(GJA5):c.625G>A (p.Val209Ile)
NM_181703.4(GJA5):c.635T>C (p.Leu212Pro) rs2524609819
NM_181703.4(GJA5):c.646G>A (p.Ala216Thr) rs1011222994
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.695AGA[1] (p.Lys233del) rs1553226904
NM_181703.4(GJA5):c.695del (p.Lys232fs) rs2524609501
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) rs782706541
NM_181703.4(GJA5):c.727C>T (p.Gln243Ter) rs2148958988
NM_181703.4(GJA5):c.730C>A (p.His244Asn)
NM_181703.4(GJA5):c.73T>C (p.Trp25Arg)
NM_181703.4(GJA5):c.743G>A (p.Cys248Tyr)
NM_181703.4(GJA5):c.769A>G (p.Ile257Val) rs1553226871
NM_181703.4(GJA5):c.76C>T (p.Leu26Phe) rs2524612562
NM_181703.4(GJA5):c.771dup (p.Val258fs) rs782700948
NM_181703.4(GJA5):c.772G>T (p.Val258Phe) rs781896001
NM_181703.4(GJA5):c.777G>T (p.Gln259His)
NM_181703.4(GJA5):c.777del (p.Ser260fs) rs1663834655
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.815A>C (p.Glu272Ala) rs782608542
NM_181703.4(GJA5):c.816G>T (p.Glu272Asp) rs782337783
NM_181703.4(GJA5):c.824C>T (p.Pro275Leu) rs1386910689
NM_181703.4(GJA5):c.827_838del (p.Gly276_Phe280delinsVal) rs2524608631
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) rs2524608662
NM_181703.4(GJA5):c.860T>A (p.Met287Lys) rs1663828689
NM_181703.4(GJA5):c.905G>A (p.Arg302Gln) rs781925387
NM_181703.4(GJA5):c.908G>A (p.Gly303Asp) rs1663824896
NM_181703.4(GJA5):c.920C>T (p.Thr307Ile) rs781992965
NM_181703.4(GJA5):c.923C>G (p.Pro308Arg) rs2524608292
NM_181703.4(GJA5):c.925G>A (p.Gly309Arg) rs1663824004
NM_181703.4(GJA5):c.926G>C (p.Gly309Ala) rs1261537063
NM_181703.4(GJA5):c.941A>G (p.Gln314Arg) rs1663823052
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) rs369631383
NM_181703.4(GJA5):c.977G>A (p.Gly326Glu) rs782703462
NM_181703.4(GJA5):c.989G>C (p.Gly330Ala) rs1364041752
NM_181703.4(GJA5):c.994C>T (p.Arg332Cys) rs782175029
NM_181703.4(GJA5):c.997C>T (p.Leu333Phe)

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