ClinVar Miner

List of variants studied for atrial fibrillation, familial, 18 by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_002476.2(MYL4):c.314-4G>A rs114024716 0.01669
NM_002476.2(MYL4):c.164-18T>C rs115582063 0.01661
NM_002476.2(MYL4):c.556A>T (p.Asn186Tyr) rs16941677 0.00828
NM_002476.2(MYL4):c.565+11G>A rs187128906 0.00450
NM_002476.2(MYL4):c.488-4G>A rs146859926 0.00309
NM_002476.2(MYL4):c.167T>C (p.Phe56Ser) rs144870368 0.00147
NM_002476.2(MYL4):c.488-5C>T rs376118927 0.00079
NM_002476.2(MYL4):c.565+12C>T rs144326821 0.00066
NM_002476.2(MYL4):c.150C>T (p.Ala50=) rs143234546 0.00057
NM_002476.2(MYL4):c.446C>T (p.Thr149Met) rs200236286 0.00020
NM_002476.2(MYL4):c.566-4C>T rs2071439 0.00019
NM_002476.2(MYL4):c.565+19C>T rs145181954 0.00014
NM_002476.2(MYL4):c.353C>G (p.Pro118Arg) rs537576399 0.00013
NM_002476.2(MYL4):c.544A>G (p.Asn182Asp) rs755977099 0.00012
NM_002476.2(MYL4):c.201G>A (p.Pro67=) rs149036573 0.00011
NM_002476.2(MYL4):c.405C>T (p.Phe135=) rs150593274 0.00011
NM_002476.2(MYL4):c.406G>A (p.Val136Met) rs375241929 0.00010
NM_002476.2(MYL4):c.339T>G (p.Phe113Leu) rs200195383 0.00009
NM_002476.2(MYL4):c.418C>T (p.Arg140Cys) rs767035280 0.00008
NM_002476.2(MYL4):c.277G>A (p.Glu93Lys) rs369894969 0.00006
NM_002476.2(MYL4):c.287G>A (p.Arg96His) rs146980908 0.00006
NM_002476.2(MYL4):c.365A>G (p.His122Arg) rs376695433 0.00006
NM_002476.2(MYL4):c.466C>T (p.Arg156Trp) rs553621405 0.00006
NM_002476.2(MYL4):c.565+13G>A rs374440892 0.00006
NM_002476.2(MYL4):c.565+17T>C rs576910138 0.00006
NM_002476.2(MYL4):c.128G>A (p.Ser43Asn) rs146860407 0.00005
NM_002476.2(MYL4):c.136A>G (p.Ile46Val) rs140603047 0.00004
NM_002476.2(MYL4):c.212T>G (p.Met71Arg) rs527647806 0.00004
NM_002476.2(MYL4):c.313+16T>C rs376080778 0.00004
NM_002476.2(MYL4):c.313+9G>A rs1418767431 0.00004
NM_002476.2(MYL4):c.374G>A (p.Arg125His) rs111293783 0.00004
NM_002476.2(MYL4):c.447G>A (p.Thr149=) rs371944933 0.00004
NM_002476.2(MYL4):c.471C>T (p.His157=) rs781162398 0.00004
NM_002476.2(MYL4):c.419G>A (p.Arg140His) rs374127769 0.00003
NM_002476.2(MYL4):c.194G>A (p.Arg65Gln) rs1050214578 0.00002
NM_002476.2(MYL4):c.234C>T (p.Cys78=) rs138710476 0.00002
NM_002476.2(MYL4):c.344C>T (p.Thr115Met) rs199794933 0.00002
NM_002476.2(MYL4):c.345G>A (p.Thr115=) rs372522881 0.00002
NM_002476.2(MYL4):c.368T>C (p.Ile123Thr) rs141766103 0.00002
NM_002476.2(MYL4):c.381G>A (p.Lys127=) rs557505985 0.00002
NM_002476.2(MYL4):c.557A>G (p.Asn186Ser) rs754888534 0.00002
NM_002476.2(MYL4):c.584T>C (p.Met195Thr) rs751027502 0.00002
NM_002476.2(MYL4):c.72A>C (p.Ala24=) rs370547497 0.00002
NM_002476.2(MYL4):c.100_102dup (p.Pro34dup) rs759787679 0.00001
NM_002476.2(MYL4):c.131T>C (p.Val44Ala) rs1454098257 0.00001
NM_002476.2(MYL4):c.153C>G (p.Asp51Glu) rs760839785 0.00001
NM_002476.2(MYL4):c.164-13C>G rs770170911 0.00001
NM_002476.2(MYL4):c.232T>C (p.Cys78Arg) rs968794341 0.00001
NM_002476.2(MYL4):c.234del (p.Cys78fs) rs776650813 0.00001
NM_002476.2(MYL4):c.23C>T (p.Pro8Leu) rs957196759 0.00001
NM_002476.2(MYL4):c.276C>T (p.Ala92=) rs1343489917 0.00001
NM_002476.2(MYL4):c.286C>T (p.Arg96Cys) rs1316011140 0.00001
NM_002476.2(MYL4):c.318G>A (p.Met106Ile) rs138156448 0.00001
NM_002476.2(MYL4):c.332T>C (p.Leu111Pro) rs1312335037 0.00001
NM_002476.2(MYL4):c.352C>T (p.Pro118Ser) rs202080282 0.00001
NM_002476.2(MYL4):c.373C>T (p.Arg125Cys) rs745710105 0.00001
NM_002476.2(MYL4):c.38C>T (p.Ala13Val) rs767067527 0.00001
NM_002476.2(MYL4):c.437G>A (p.Ser146Asn) rs752796010 0.00001
NM_002476.2(MYL4):c.479C>T (p.Ala160Val) rs1324194950 0.00001
NM_002476.2(MYL4):c.487+14G>A rs1282938957 0.00001
NM_002476.2(MYL4):c.487+1G>A rs769405762 0.00001
NM_002476.2(MYL4):c.487+4T>C rs1443330356 0.00001
NM_002476.2(MYL4):c.488-1G>A rs770372675 0.00001
NM_002476.2(MYL4):c.522G>A (p.Leu174=) rs767533462 0.00001
NM_002476.2(MYL4):c.537G>A (p.Glu179=) rs181540609 0.00001
NM_002476.2(MYL4):c.565+10C>T rs778856429 0.00001
NM_002476.2(MYL4):c.567C>T (p.Ala189=) rs777538559 0.00001
NM_002476.2(MYL4):c.57A>G (p.Pro19=) rs765876288 0.00001
NM_002476.2(MYL4):c.581T>C (p.Ile194Thr) rs1033872857 0.00001
NC_000017.10:g.(?_45297260)_(45300418_?)del
NM_002476.2(MYL4):c.102C>T (p.Pro34=)
NM_002476.2(MYL4):c.103A>G (p.Lys35Glu)
NM_002476.2(MYL4):c.113C>A (p.Ala38Asp) rs780020430
NM_002476.2(MYL4):c.113C>G (p.Ala38Gly) rs780020430
NM_002476.2(MYL4):c.11A>G (p.Lys4Arg) rs2149040681
NM_002476.2(MYL4):c.125A>G (p.Lys42Arg)
NM_002476.2(MYL4):c.135+14A>G
NM_002476.2(MYL4):c.135+1G>A
NM_002476.2(MYL4):c.135G>A (p.Lys45=) rs1390187341
NM_002476.2(MYL4):c.136-3C>T
NM_002476.2(MYL4):c.136A>T (p.Ile46Leu) rs140603047
NM_002476.2(MYL4):c.137T>C (p.Ile46Thr) rs1335950112
NM_002476.2(MYL4):c.137T>G (p.Ile46Arg) rs1335950112
NM_002476.2(MYL4):c.14A>G (p.Lys5Arg) rs2149040684
NM_002476.2(MYL4):c.150C>G (p.Ala50=)
NM_002476.2(MYL4):c.159T>G (p.Ile53Met) rs2064793779
NM_002476.2(MYL4):c.163+16C>T
NM_002476.2(MYL4):c.163+17C>A
NM_002476.2(MYL4):c.163+17C>G
NM_002476.2(MYL4):c.163+6T>A
NM_002476.2(MYL4):c.164-16G>A
NM_002476.2(MYL4):c.164-1G>C
NM_002476.2(MYL4):c.164-20G>A
NM_002476.2(MYL4):c.164-4A>C rs2149047338
NM_002476.2(MYL4):c.164-8C>T rs893225315
NM_002476.2(MYL4):c.175G>T (p.Ala59Ser)
NM_002476.2(MYL4):c.184T>C (p.Leu62=)
NM_002476.2(MYL4):c.193C>T (p.Arg65Trp)
NM_002476.2(MYL4):c.196A>C (p.Thr66Pro)
NM_002476.2(MYL4):c.199C>T (p.Pro67Ser) rs2149047378
NM_002476.2(MYL4):c.19G>A (p.Glu7Lys)
NM_002476.2(MYL4):c.200C>T (p.Pro67Leu)
NM_002476.2(MYL4):c.203C>T (p.Thr68Ile)
NM_002476.2(MYL4):c.207A>T (p.Gly69=)
NM_002476.2(MYL4):c.210G>T (p.Glu70Asp) rs868718115
NM_002476.2(MYL4):c.211A>G (p.Met71Val) rs2064842715
NM_002476.2(MYL4):c.223T>A (p.Tyr75Asn) rs1184329279
NM_002476.2(MYL4):c.225C>T (p.Tyr75=)
NM_002476.2(MYL4):c.22C>G (p.Pro8Ala)
NM_002476.2(MYL4):c.230A>G (p.Gln77Arg)
NM_002476.2(MYL4):c.231G>C (p.Gln77His)
NM_002476.2(MYL4):c.233G>A (p.Cys78Tyr)
NM_002476.2(MYL4):c.235G>A (p.Gly79Arg)
NM_002476.2(MYL4):c.236G>A (p.Gly79Glu)
NM_002476.2(MYL4):c.248G>A (p.Arg83Gln) rs760514647
NM_002476.2(MYL4):c.248G>T (p.Arg83Leu) rs760514647
NM_002476.2(MYL4):c.251C>T (p.Ala84Val) rs2064843483
NM_002476.2(MYL4):c.252C>T (p.Ala84=) rs1598659253
NM_002476.2(MYL4):c.253C>G (p.Leu85Val)
NM_002476.2(MYL4):c.284T>C (p.Leu95Pro)
NM_002476.2(MYL4):c.291G>T (p.Val97=)
NM_002476.2(MYL4):c.300G>A (p.Lys100=) rs2064844083
NM_002476.2(MYL4):c.304A>G (p.Lys102Glu) rs2064844186
NM_002476.2(MYL4):c.30G>C (p.Lys10Asn)
NM_002476.2(MYL4):c.313+19C>T
NM_002476.2(MYL4):c.313+1G>T
NM_002476.2(MYL4):c.313+8C>A rs372826462
NM_002476.2(MYL4):c.313+8C>T rs372826462
NM_002476.2(MYL4):c.314-16C>T
NM_002476.2(MYL4):c.314-1G>C
NM_002476.2(MYL4):c.314-6C>T rs2149048609
NM_002476.2(MYL4):c.314-9T>C
NM_002476.2(MYL4):c.315G>A (p.Glu105=)
NM_002476.2(MYL4):c.316A>G (p.Met106Val)
NM_002476.2(MYL4):c.317T>C (p.Met106Thr)
NM_002476.2(MYL4):c.31G>A (p.Glu11Lys) rs886037778
NM_002476.2(MYL4):c.348C>T (p.Phe116=)
NM_002476.2(MYL4):c.351G>A (p.Leu117=)
NM_002476.2(MYL4):c.353C>A (p.Pro118His)
NM_002476.2(MYL4):c.361C>T (p.Gln121Ter)
NM_002476.2(MYL4):c.370T>G (p.Ser124Ala)
NM_002476.2(MYL4):c.371C>T (p.Ser124Phe)
NM_002476.2(MYL4):c.392C>T (p.Thr131Ile) rs2149048719
NM_002476.2(MYL4):c.396T>C (p.Tyr132=)
NM_002476.2(MYL4):c.429C>T (p.Asp143=)
NM_002476.2(MYL4):c.435G>C (p.Glu145Asp) rs765494388
NM_002476.2(MYL4):c.441T>C (p.Asn147=)
NM_002476.2(MYL4):c.454G>T (p.Gly152Cys) rs2064858475
NM_002476.2(MYL4):c.455G>A (p.Gly152Asp)
NM_002476.2(MYL4):c.467G>A (p.Arg156Gln)
NM_002476.2(MYL4):c.469C>G (p.His157Asp)
NM_002476.2(MYL4):c.472G>A (p.Val158Ile)
NM_002476.2(MYL4):c.474C>T (p.Val158=) rs2149048808
NM_002476.2(MYL4):c.481A>T (p.Thr161Ser)
NM_002476.2(MYL4):c.482C>T (p.Thr161Ile) rs2149048813
NM_002476.2(MYL4):c.487+13G>A rs1223343679
NM_002476.2(MYL4):c.487+1G>C rs769405762
NM_002476.2(MYL4):c.487+20A>C rs2149048835
NM_002476.2(MYL4):c.487+3A>T
NM_002476.2(MYL4):c.488-10C>A
NM_002476.2(MYL4):c.488-9C>A rs1180756106
NM_002476.2(MYL4):c.48TCCAGC[1] (p.16AP[6])
NM_002476.2(MYL4):c.48TCCAGC[2] (p.16AP[7]) rs763415247
NM_002476.2(MYL4):c.48TCCAGC[4] (p.16AP[9]) rs763415247
NM_002476.2(MYL4):c.504G>A (p.Glu168=)
NM_002476.2(MYL4):c.518A>G (p.Gln173Arg) rs373421058
NM_002476.2(MYL4):c.530G>A (p.Gly177Glu) rs2149049181
NM_002476.2(MYL4):c.532C>T (p.Gln178Ter)
NM_002476.2(MYL4):c.549C>T (p.Gly183=)
NM_002476.2(MYL4):c.551G>A (p.Cys184Tyr) rs2149049200
NM_002476.2(MYL4):c.565+11G>T
NM_002476.2(MYL4):c.565+12C>A
NM_002476.2(MYL4):c.565+2T>C rs866626237
NM_002476.2(MYL4):c.565+4T>C
NM_002476.2(MYL4):c.565+7A>G
NM_002476.2(MYL4):c.576G>A (p.Lys192=)
NM_002476.2(MYL4):c.582C>A (p.Ile194=) rs1405716390
NM_002476.2(MYL4):c.583A>G (p.Met195Val)
NM_002476.2(MYL4):c.587C>G (p.Ser196Ter) rs2149049561
NM_002476.2(MYL4):c.588A>G (p.Ser196=)
NM_002476.2(MYL4):c.60_71del (p.16AP[6])
NM_002476.2(MYL4):c.66C>T (p.Ala22=)
NM_002476.2(MYL4):c.68C>T (p.Pro23Leu) rs764371297
NM_002476.2(MYL4):c.6T>C (p.Ala2=)
NM_002476.2(MYL4):c.70G>T (p.Ala24Ser)
NM_002476.2(MYL4):c.72A>G (p.Ala24=)
NM_002476.2(MYL4):c.78_89dup (p.Pro31_Glu32insAlaProAlaPro)
NM_002476.2(MYL4):c.82G>A (p.Ala28Thr) rs2149040773

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