ClinVar Miner

List of variants in gene PRKG1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 210
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HGVS dbSNP gnomAD frequency
NM_006258.4(PRKG1):c.1001+223G>A rs7097336 0.99847
NM_006258.4(PRKG1):c.1313+194T>C rs1194516 0.89799
NM_006258.4(PRKG1):c.762+113C>T rs10823860 0.75789
NM_006258.4(PRKG1):c.762+256C>A rs7083138 0.75786
NM_006258.4(PRKG1):c.762+146G>A rs7081919 0.75582
NM_006258.4(PRKG1):c.1076+31C>A rs10824173 0.74535
NM_006258.4(PRKG1):c.1710-252G>A rs7916242 0.61859
NM_006258.4(PRKG1):c.*253_*254insG rs5784918 0.48078
NM_006258.4(PRKG1):c.1962+29G>A rs10762675 0.47979
NM_006258.4(PRKG1):c.1173+239A>G rs10824300 0.46905
NM_006258.4(PRKG1):c.840+62C>T rs12778630 0.38605
NM_006258.4(PRKG1):c.763-296A>G rs1904008 0.38426
NM_006258.4(PRKG1):c.763-291A>C rs1904009 0.38422
NM_006258.4(PRKG1):c.936-216C>T rs34582712 0.33197
NM_006258.4(PRKG1):c.762+274G>T rs34873454 0.27250
NM_006258.4(PRKG1):c.*157C>T rs1881597 0.26778
NM_006258.4(PRKG1):c.762+132A>G rs11000040 0.20928
NM_006258.4(PRKG1):c.936-61A>T rs17642863 0.16867
NM_006258.4(PRKG1):c.1001+206T>C rs58118931 0.15673
NM_006258.4(PRKG1):c.1896-149G>A rs41281544 0.14100
NM_006258.4(PRKG1):c.936-295C>A rs77138124 0.12074
NM_006258.4(PRKG1):c.1896-263G>A rs16928983 0.11275
NM_001098512.3(PRKG1):c.267-79022C>T rs12264657 0.09404
NM_006258.4(PRKG1):c.1314-195C>T rs16928725 0.07297
NM_006258.4(PRKG1):c.1002-65C>T rs73344945 0.05135
NM_006258.4(PRKG1):c.1895+170A>G rs11001464 0.04558
NM_006258.4(PRKG1):c.935+262C>T rs17560996 0.03825
NM_006258.4(PRKG1):c.1962+255A>T rs57197814 0.03664
NM_006258.4(PRKG1):c.936-170G>T rs16927140 0.03308
NM_006258.4(PRKG1):c.1076+125A>C rs7897308 0.03249
NM_006258.4(PRKG1):c.1076+114G>C rs7908413 0.03248
NM_006258.4(PRKG1):c.1403+101A>C rs79637161 0.03157
NM_006258.4(PRKG1):c.1173+214C>A rs79543394 0.03148
NM_006258.4(PRKG1):c.1173+215T>A rs77530078 0.03146
NM_006258.4(PRKG1):c.312-170del rs75959880 0.03074
NM_006258.4(PRKG1):c.1174-217T>C rs74135384 0.02747
NM_001098512.3(PRKG1):c.-144C>A rs114234235 0.02572
NM_006258.4(PRKG1):c.1404-113G>C rs78346962 0.02518
NM_006258.4(PRKG1):c.762+104A>T rs74135025 0.02506
NM_006258.4(PRKG1):c.1403+28A>G rs76977136 0.02474
NM_006258.4(PRKG1):c.1174-146G>C rs16928684 0.02468
NM_006258.4(PRKG1):c.1174-290C>T rs16928683 0.02466
NM_006258.4(PRKG1):c.1313+114C>A rs74349227 0.02452
NM_006258.4(PRKG1):c.1709+178G>A rs16928850 0.02385
NM_001098512.3(PRKG1):c.-359del rs201938144 0.02272
NM_001098512.3(PRKG1):c.-152A>G rs111417107 0.02001
NM_006258.4(PRKG1):c.1546-52T>A rs11001441 0.01950
NM_006258.4(PRKG1):c.936-70T>C rs115286711 0.01937
NM_006258.4(PRKG1):c.593-192A>C rs16913410 0.01680
NM_006258.4(PRKG1):c.1963-151A>G rs9664313 0.01665
NM_006258.4(PRKG1):c.841-58T>C rs111827370 0.01440
NM_006258.4(PRKG1):c.1404-308C>T rs74133304 0.01319
NM_006258.4(PRKG1):c.479-188T>C rs146748408 0.01284
NM_006258.4(PRKG1):c.763-283A>G rs143782674 0.01224
NM_006258.4(PRKG1):c.1546-201C>T rs114298342 0.01084
NM_006258.4(PRKG1):c.936-167A>G rs7077884 0.00999
NM_006258.4(PRKG1):c.1002-190C>T rs41436851 0.00918
NM_006258.4(PRKG1):c.1546-284G>C rs139929867 0.00827
NM_001098512.3(PRKG1):c.267-78848C>G rs541141424 0.00782
NM_006258.4(PRKG1):c.1077-208G>A rs115808289 0.00759
NM_006258.4(PRKG1):c.1963-92A>C rs11001486 0.00733
NM_006258.4(PRKG1):c.762+158G>A rs146613422 0.00692
NM_006258.4(PRKG1):c.1001+136G>A rs79969716 0.00667
NM_006258.4(PRKG1):c.592+174A>C rs190288401 0.00625
NM_006258.4(PRKG1):c.479-198G>T rs530698092 0.00550
NM_006258.4(PRKG1):c.479-197T>C rs544043034 0.00549
NM_006258.4(PRKG1):c.1313+62C>G rs144203862 0.00492
NM_006258.4(PRKG1):c.592+37G>A rs140578998 0.00491
NM_001098512.3(PRKG1):c.266+134C>A rs183264171 0.00489
NM_006258.4(PRKG1):c.1962+154C>A rs114131500 0.00463
NM_006258.4(PRKG1):c.478+304C>T rs115175554 0.00444
NM_006258.4(PRKG1):c.426C>T (p.Asp142=) rs55754654 0.00439
NM_006258.4(PRKG1):c.312-278C>T rs185757884 0.00392
NM_006258.4(PRKG1):c.1962+246C>A rs189446419 0.00325
NM_006258.4(PRKG1):c.593-216C>T rs150113730 0.00309
NM_001098512.3(PRKG1):c.-75C>A rs559862615 0.00285
NM_001098512.3(PRKG1):c.266+35C>T rs12221331 0.00214
NM_006258.4(PRKG1):c.906A>C (p.Gly302=) rs145917628 0.00185
NM_006258.4(PRKG1):c.312-174T>G rs567582035 0.00165
NM_006258.4(PRKG1):c.1299C>T (p.Ser433=) rs145035655 0.00127
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199 0.00097
NM_006258.4(PRKG1):c.-30A>G rs199796018 0.00064
NM_001098512.3(PRKG1):c.39G>A (p.Met13Ile) rs202017913 0.00060
NM_006258.4(PRKG1):c.1545+44T>C rs2303567 0.00053
NM_006258.4(PRKG1):c.1963-16T>G rs376174664 0.00052
NM_006258.4(PRKG1):c.675C>T (p.Thr225=) rs142166726 0.00050
NM_006258.4(PRKG1):c.1002-10C>T rs374171830 0.00031
NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe) rs149710600 0.00027
NM_006258.4(PRKG1):c.1002-9G>A rs200218082 0.00022
NM_006258.4(PRKG1):c.893C>T (p.Thr298Ile) rs140716870 0.00022
NM_006258.4(PRKG1):c.810G>C (p.Gly270=) rs151055252 0.00016
NM_006258.4(PRKG1):c.1017G>A (p.Leu339=) rs187636159 0.00012
NM_006258.4(PRKG1):c.790A>G (p.Ile264Val) rs56082459 0.00012
NM_006258.4(PRKG1):c.1026G>A (p.Gly342=) rs374834674 0.00011
NM_006258.4(PRKG1):c.1662C>T (p.Ala554=) rs374202731 0.00011
NM_006258.4(PRKG1):c.2043A>T (p.Gly681=) rs146785168 0.00011
NM_006258.4(PRKG1):c.839C>T (p.Thr280Met) rs376134488 0.00011
NM_006258.4(PRKG1):c.1174-9T>G rs372515971 0.00008
NM_006258.4(PRKG1):c.1092G>A (p.Ala364=) rs373675576 0.00007
NM_006258.4(PRKG1):c.63G>A (p.Arg21=) rs143805509 0.00007
NM_006258.4(PRKG1):c.980C>A (p.Thr327Asn) rs138485549 0.00007
NM_006258.4(PRKG1):c.2014G>A (p.Asp672Asn) rs142375882 0.00006
NM_006258.4(PRKG1):c.30G>A (p.Ala10=) rs768867882 0.00006
NM_006258.4(PRKG1):c.1867A>T (p.Asn623Tyr) rs201720423 0.00005
NM_006258.4(PRKG1):c.1228C>T (p.Arg410Cys) rs377519440 0.00004
NM_006258.4(PRKG1):c.123G>A (p.Lys41=) rs146681875 0.00004
NM_006258.4(PRKG1):c.1264C>T (p.Arg422Cys) rs147351459 0.00004
NM_006258.4(PRKG1):c.1423A>G (p.Thr475Ala) rs140630065 0.00004
NM_006258.4(PRKG1):c.1988A>G (p.Asn663Ser) rs766915028 0.00004
NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln) rs761759814 0.00004
NM_006258.4(PRKG1):c.1102G>A (p.Ala368Thr) rs755634503 0.00003
NM_006258.4(PRKG1):c.1229G>A (p.Arg410His) rs201147665 0.00003
NM_006258.4(PRKG1):c.165A>T (p.Pro55=) rs761986596 0.00003
NM_006258.4(PRKG1):c.2042G>C (p.Gly681Ala) rs750949508 0.00002
NM_006258.4(PRKG1):c.299C>G (p.Pro100Arg) rs763629518 0.00002
NM_006258.4(PRKG1):c.586G>A (p.Val196Ile) rs777385159 0.00002
NM_006258.4(PRKG1):c.622G>A (p.Asp208Asn) rs760798881 0.00002
NM_006258.4(PRKG1):c.777T>C (p.Asn259=) rs774710312 0.00002
NM_006258.4(PRKG1):c.841-9T>C rs553608826 0.00002
NM_006258.4(PRKG1):c.854G>A (p.Arg285His) rs765812630 0.00002
NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser) rs775720873 0.00001
NM_006258.4(PRKG1):c.1106A>G (p.Asn369Ser) rs775372704 0.00001
NM_006258.4(PRKG1):c.170C>T (p.Thr57Ile) rs758888287 0.00001
NM_006258.4(PRKG1):c.1710C>T (p.Ser570=) rs200610874 0.00001
NM_006258.4(PRKG1):c.1750A>G (p.Ile584Val) rs1842176037 0.00001
NM_006258.4(PRKG1):c.1936A>G (p.Thr646Ala) rs1057524623 0.00001
NM_006258.4(PRKG1):c.2016T>C (p.Asp672=) rs781473103 0.00001
NM_006258.4(PRKG1):c.2052A>G (p.Ile684Met) rs374752370 0.00001
NM_006258.4(PRKG1):c.259G>A (p.Asp87Asn) rs1282024063 0.00001
NM_006258.4(PRKG1):c.378G>C (p.Gln126His) rs749508576 0.00001
NM_006258.4(PRKG1):c.395A>G (p.Asp132Gly) rs140871298 0.00001
NM_006258.4(PRKG1):c.449A>C (p.Asp150Ala) rs775427696 0.00001
NM_006258.4(PRKG1):c.450C>T (p.Asp150=) rs368286950 0.00001
NM_006258.4(PRKG1):c.473T>C (p.Met158Thr) rs767973721 0.00001
NM_006258.4(PRKG1):c.478+10G>T rs763995628 0.00001
NM_006258.4(PRKG1):c.619A>G (p.Ile207Val) rs1235083176 0.00001
NM_006258.4(PRKG1):c.935+5G>A rs80293383 0.00001
GRCh37/hg19 10q21.1(chr10:53204509-53211991)x1
GRCh37/hg19 10q21.1(chr10:53269467-53318238)x1
GRCh37/hg19 10q21.1(chr10:53699753-53701052)x1
GRCh37/hg19 10q21.1(chr10:53825576-53983258)x3
GRCh37/hg19 10q21.1(chr10:54012974-54017651)x1
GRCh37/hg19 10q21.1(chr10:54016062-54019620)x0
GRCh37/hg19 10q21.1(chr10:54016062-54024195)x3
GRCh37/hg19 10q21.1(chr10:54016062-54028464)x1
GRCh37/hg19 10q21.1(chr10:54016099-54019620)x1
NC_000010.11:g.50990877del rs111693383
NC_000010.11:g.50990877dup rs111693383
NM_001098512.3(PRKG1):c.-345A>G rs186127402
NM_001098512.3(PRKG1):c.-474C>T rs2248908
NM_001098512.3(PRKG1):c.-49_-48insTGC rs35361017
NM_001098512.3(PRKG1):c.-68GCC[12] rs79957958
NM_001098512.3(PRKG1):c.-68GCC[13] rs79957958
NM_001098512.3(PRKG1):c.-68GCC[15] rs79957958
NM_001098512.3(PRKG1):c.-68GCC[8] rs79957958
NM_001098512.3(PRKG1):c.246G>C (p.Arg82=) rs1554828392
NM_001098512.3(PRKG1):c.266+52G>C rs555654395
NM_006258.4(PRKG1):c.1000G>A (p.Asp334Asn) rs2132635326
NM_006258.4(PRKG1):c.1001+6447A>T rs2132648423
NM_006258.4(PRKG1):c.1067C>T (p.Ala356Val)
NM_006258.4(PRKG1):c.1076+19_1076+20insTGGCCTT rs146504019
NM_006258.4(PRKG1):c.1076+22785T>C
NM_006258.4(PRKG1):c.1144G>A (p.Gly382Arg) rs1554821529
NM_006258.4(PRKG1):c.1174-122_1174-121del rs145585088
NM_006258.4(PRKG1):c.1174-84G>T rs10454466
NM_006258.4(PRKG1):c.1190A>G (p.Glu397Gly)
NM_006258.4(PRKG1):c.1232A>G (p.His411Arg) rs2132432761
NM_006258.4(PRKG1):c.1403+285_1403+286insACAG rs143147791
NM_006258.4(PRKG1):c.1528C>A (p.Arg510=)
NM_006258.4(PRKG1):c.1528C>G (p.Arg510Gly) rs1564544146
NM_006258.4(PRKG1):c.1545+27G>T rs7912782
NM_006258.4(PRKG1):c.1546-141_1546-137dup rs200218300
NM_006258.4(PRKG1):c.1559T>G (p.Phe520Cys)
NM_006258.4(PRKG1):c.1584G>A (p.Lys528=)
NM_006258.4(PRKG1):c.1674A>C (p.Ser558=) rs1564544689
NM_006258.4(PRKG1):c.1742C>T (p.Thr581Ile)
NM_006258.4(PRKG1):c.1858A>T (p.Asn620Tyr) rs2132460377
NM_006258.4(PRKG1):c.1962+40G>A rs147550708
NM_006258.4(PRKG1):c.1968A>G (p.Ala656=) rs564599393
NM_006258.4(PRKG1):c.1993G>T (p.Asp665Tyr) rs2132469736
NM_006258.4(PRKG1):c.2005G>A (p.Glu669Lys) rs2132469753
NM_006258.4(PRKG1):c.2011_2013del (p.Asn671del) rs773730432
NM_006258.4(PRKG1):c.211G>A (p.Glu71Lys) rs2132804640
NM_006258.4(PRKG1):c.226C>A (p.Arg76=) rs919667557
NM_006258.4(PRKG1):c.226C>T (p.Arg76Trp) rs919667557
NM_006258.4(PRKG1):c.312-170G>T rs3740292
NM_006258.4(PRKG1):c.319G>C (p.Asp107His) rs751916382
NM_006258.4(PRKG1):c.389T>C (p.Ile130Thr) rs771121101
NM_006258.4(PRKG1):c.421A>G (p.Lys141Glu) rs761759814
NM_006258.4(PRKG1):c.478+163_478+166del rs142371458
NM_006258.4(PRKG1):c.522C>T (p.Thr174=) rs369697050
NM_006258.4(PRKG1):c.542T>C (p.Phe181Ser) rs141293448
NM_006258.4(PRKG1):c.546G>A (p.Gly182=) rs73336216
NM_006258.4(PRKG1):c.553G>A (p.Ala185Thr) rs1554812434
NM_006258.4(PRKG1):c.568T>C (p.Cys190Arg) rs1554812441
NM_006258.4(PRKG1):c.575G>A (p.Arg192Gln) rs397515330
NM_006258.4(PRKG1):c.5G>A (p.Gly2Asp) rs1843898285
NM_006258.4(PRKG1):c.610C>T (p.Leu204Phe) rs1839257214
NM_006258.4(PRKG1):c.620T>C (p.Ile207Thr)
NM_006258.4(PRKG1):c.683T>C (p.Met228Thr) rs1468952215
NM_006258.4(PRKG1):c.699-118del rs34697221
NM_006258.4(PRKG1):c.699-118dup rs34697221
NM_006258.4(PRKG1):c.699-119_699-118dup rs34697221
NM_006258.4(PRKG1):c.762+1165_762+1166insATATATATATATATATTTTTT
NM_006258.4(PRKG1):c.762+1165_762+1166insATATATATATATATTTTTT
NM_006258.4(PRKG1):c.762+1221G>A
NM_006258.4(PRKG1):c.80A>T (p.Glu27Val)
NM_006258.4(PRKG1):c.840+5G>T rs1064796485
NM_006258.4(PRKG1):c.910T>A (p.Trp304Arg)
NM_006258.4(PRKG1):c.958G>C (p.Val320Leu)

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