ClinVar Miner

List of variants studied for short QT syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 252
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123 0.20300
NM_000891.3(KCNJ2):c.*2752T>C rs993085233 0.04719
NM_000891.3(KCNJ2):c.*2758T>C rs1324652195 0.04554
NM_000891.3(KCNJ2):c.-163_-162insTC rs61077847 0.02248
NM_000891.3(KCNJ2):c.-162_-161insGAGTAGT rs58144126 0.02246
NM_000891.3(KCNJ2):c.*2483G>A rs559751598 0.00158
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser) rs41314354 0.00079
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr) rs150817714 0.00076
NM_000891.3(KCNJ2):c.*2277C>T rs185701493 0.00071
NM_000891.3(KCNJ2):c.*1794C>A rs55864879 0.00067
NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=) rs144985256 0.00054
NM_000238.4(KCNH2):c.3153-18C>T rs201337201 0.00054
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=) rs137887424 0.00050
NM_000238.4(KCNH2):c.2965+14C>T rs201706355 0.00040
NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=) rs199767579 0.00029
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669 0.00028
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820 0.00024
NM_000238.4(KCNH2):c.707G>T (p.Gly236Val) rs199472870 0.00023
NM_000238.4(KCNH2):c.2398+16C>T rs201873431 0.00022
NM_000891.3(KCNJ2):c.*3536C>T rs529969829 0.00022
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443 0.00018
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00016
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys) rs375330016 0.00015
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000891.3(KCNJ2):c.*1128dup rs777658732 0.00014
NM_000891.3(KCNJ2):c.*213G>A rs886053326 0.00014
NM_000238.4(KCNH2):c.2692+7C>T rs372023163 0.00013
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp) rs199473022 0.00013
NM_000238.4(KCNH2):c.473-7C>T rs146570628 0.00013
NM_000891.3(KCNJ2):c.*2887T>G rs770284843 0.00013
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) rs373799322 0.00013
NM_000238.4(KCNH2):c.3089C>T (p.Pro1030Leu) rs904066540 0.00011
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser) rs141035459 0.00011
NM_000238.4(KCNH2):c.2769G>A (p.Pro923=) rs557789224 0.00010
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn) rs569452580 0.00010
NM_000891.3(KCNJ2):c.*3409A>G rs551384883 0.00010
NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=) rs200275211 0.00009
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) rs199472880 0.00009
NM_000238.4(KCNH2):c.889C>T (p.Pro297Ser) rs199472882 0.00008
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) rs199472885 0.00008
NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671 0.00007
NM_000218.3(KCNQ1):c.493G>A (p.Val165Met) rs1085307580 0.00007
NM_000238.4(KCNH2):c.3278C>T (p.Pro1093Leu) rs199473545 0.00007
NM_000891.3(KCNJ2):c.*2616A>G rs542407766 0.00007
NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys) rs140279503 0.00006
NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) rs794728399 0.00006
NM_000238.4(KCNH2):c.440A>G (p.His147Arg) rs768938134 0.00006
NM_000891.3(KCNJ2):c.*2065A>G rs778894111 0.00006
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln) rs145974930 0.00005
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=) rs200670744 0.00005
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser) rs775608046 0.00005
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg) rs199473484 0.00005
NM_000218.3(KCNQ1):c.197C>A (p.Ser66Tyr) rs199473446 0.00005
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys) rs199473464 0.00005
NM_000238.4(KCNH2):c.2696C>T (p.Thr899Met) rs1480554629 0.00005
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733 0.00005
NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser) rs778879572 0.00005
NM_000238.4(KCNH2):c.443G>A (p.Arg148Gln) rs374912424 0.00005
NM_000238.4(KCNH2):c.491G>A (p.Arg164His) rs199472866 0.00005
NM_000891.3(KCNJ2):c.*709A>G rs950748341 0.00005
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser) rs375605948 0.00005
NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr) rs753256800 0.00004
NM_000218.3(KCNQ1):c.1750G>A (p.Gly584Ser) rs199472811 0.00004
NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) rs771921468 0.00004
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) rs1424013094 0.00004
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp) rs150172393 0.00004
NM_000238.4(KCNH2):c.-207C>T rs886062091 0.00004
NM_000238.4(KCNH2):c.115T>C (p.Cys39Arg) rs757491162 0.00004
NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile) rs374376640 0.00004
NM_000238.4(KCNH2):c.1945+18C>T rs778276270 0.00004
NM_000238.4(KCNH2):c.2675G>A (p.Arg892His) rs774216337 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000238.4(KCNH2):c.2810G>A (p.Ser937Asn) rs199473540 0.00004
NM_000238.4(KCNH2):c.2901G>A (p.Pro967=) rs780481239 0.00004
NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp) rs199473021 0.00004
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485 0.00004
NM_000218.3(KCNQ1):c.1238A>G (p.Lys413Arg) rs1351149628 0.00003
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787 0.00003
NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser) rs763478809 0.00003
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) rs199472709 0.00003
NM_000238.4(KCNH2):c.2770G>T (p.Gly924Trp) rs794728397 0.00003
NM_000238.4(KCNH2):c.2902C>G (p.Pro968Ala) rs753788508 0.00003
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) rs373394254 0.00003
NM_000238.4(KCNH2):c.3153-4C>T rs181119727 0.00003
NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala) rs751559990 0.00003
NM_000891.3(KCNJ2):c.*2698T>C rs368668294 0.00003
NM_000218.3(KCNQ1):c.1128+5G>A rs76735093 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000218.3(KCNQ1):c.1795-10G>A rs780067234 0.00002
NM_000218.3(KCNQ1):c.345G>A (p.Glu115=) rs758960211 0.00002
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) rs200108320 0.00002
NM_000238.4(KCNH2):c.1071G>T (p.Glu357Asp) rs762016259 0.00002
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924 0.00002
NM_000238.4(KCNH2):c.2190G>A (p.Leu730=) rs1401248493 0.00002
NM_000238.4(KCNH2):c.2504G>A (p.Arg835Gln) rs794728395 0.00002
NM_000238.4(KCNH2):c.2641T>A (p.Phe881Ile) rs1197425750 0.00002
NM_000238.4(KCNH2):c.2887C>A (p.Pro963Thr) rs199473014 0.00002
NM_000238.4(KCNH2):c.2903C>T (p.Pro968Leu) rs199473017 0.00002
NM_000238.4(KCNH2):c.3020G>A (p.Arg1007His) rs199473542 0.00002
NM_000238.4(KCNH2):c.3049G>T (p.Ala1017Ser) rs950543448 0.00002
NM_000238.4(KCNH2):c.3103C>T (p.Arg1035Trp) rs199473543 0.00002
NM_000238.4(KCNH2):c.3233A>G (p.Tyr1078Cys) rs199473029 0.00002
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr) rs199473035 0.00002
NM_000238.4(KCNH2):c.967G>A (p.Asp323Asn) rs199472887 0.00002
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val) rs775362401 0.00001
NM_000218.3(KCNQ1):c.1202G>A (p.Arg401Gln) rs542628042 0.00001
NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) rs149089817 0.00001
NM_000218.3(KCNQ1):c.1351C>T (p.Arg451Trp) rs199472782 0.00001
NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=) rs200418488 0.00001
NM_000218.3(KCNQ1):c.1501A>G (p.Thr501Ala) rs749196110 0.00001
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln) rs369571296 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000218.3(KCNQ1):c.1686-18C>G rs1846715620 0.00001
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser) rs780676796 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.1864G>A (p.Gly622Ser) rs1225780996 0.00001
NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu) rs939431028 0.00001
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met) rs199472694 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) rs199472697 0.00001
NM_000218.3(KCNQ1):c.559C>T (p.Leu187Phe) rs1282771390 0.00001
NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys) rs775059928 0.00001
NM_000218.3(KCNQ1):c.604+12C>T rs370821907 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly) rs368011737 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp) rs199472726 0.00001
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter) rs120074186 0.00001
NM_000238.4(KCNH2):c.1128+1810C>T rs972201049 0.00001
NM_000238.4(KCNH2):c.1178C>T (p.Pro393Leu) rs769814960 0.00001
NM_000238.4(KCNH2):c.1190G>A (p.Arg397His) rs368817970 0.00001
NM_000238.4(KCNH2):c.1426G>A (p.Val476Ile) rs199472908 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.156C>T (p.Cys52=) rs754921704 0.00001
NM_000238.4(KCNH2):c.1621C>T (p.Arg541Cys) rs764666519 0.00001
NM_000238.4(KCNH2):c.2080C>T (p.Arg694Cys) rs765717858 0.00001
NM_000238.4(KCNH2):c.2231G>A (p.Arg744Gln) rs1264176305 0.00001
NM_000238.4(KCNH2):c.2458G>A (p.Gly820Arg) rs199473001 0.00001
NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu) rs763031434 0.00001
NM_000238.4(KCNH2):c.26C>T (p.Ala9Val) rs775317201 0.00001
NM_000238.4(KCNH2):c.2765G>A (p.Arg922Gln) rs199473439 0.00001
NM_000238.4(KCNH2):c.2783G>A (p.Gly928Glu) rs1339223823 0.00001
NM_000238.4(KCNH2):c.2832G>T (p.Glu944Asp) rs1232364499 0.00001
NM_000238.4(KCNH2):c.2842C>T (p.Arg948Cys) rs121912514 0.00001
NM_000238.4(KCNH2):c.2968G>A (p.Ala990Thr) rs754362735 0.00001
NM_000238.4(KCNH2):c.3013C>T (p.Arg1005Trp) rs1016101226 0.00001
NM_000238.4(KCNH2):c.3014G>A (p.Arg1005Gln) rs199473019 0.00001
NM_000238.4(KCNH2):c.3095G>A (p.Arg1032Gln) rs199473020 0.00001
NM_000238.4(KCNH2):c.3118A>G (p.Ser1040Gly) rs199473024 0.00001
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) rs786205422 0.00001
NM_000238.4(KCNH2):c.3416C>T (p.Pro1139Leu) rs886062086 0.00001
NM_000238.4(KCNH2):c.343G>A (p.Val115Met) rs150988911 0.00001
NM_000238.4(KCNH2):c.38C>A (p.Thr13Asn) rs758978727 0.00001
NM_000238.4(KCNH2):c.478G>T (p.Ala160Ser) rs1210130846 0.00001
NM_000238.4(KCNH2):c.614C>T (p.Pro205Leu) rs1326885330 0.00001
NM_000238.4(KCNH2):c.652A>G (p.Met218Val) rs199472869 0.00001
NM_000238.4(KCNH2):c.773C>T (p.Pro258Leu) rs1367019959 0.00001
NM_000238.4(KCNH2):c.950A>G (p.Asn317Ser) rs779027664 0.00001
NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe) rs750630010 0.00001
NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val) rs371331394 0.00001
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe) rs779856198 0.00001
NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser) rs1261477163 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_000891.3(KCNJ2):c.974G>A (p.Arg325His) rs1555604000 0.00001
NM_000218.3(KCNQ1):c.-69G>A rs886048159
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del) rs397508068
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.1150G>A (p.Ala384Thr) rs1848610150
NM_000218.3(KCNQ1):c.1177A>G (p.Lys393Glu) rs1848611273
NM_000218.3(KCNQ1):c.1193A>G (p.Lys398Arg) rs199472777
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs) rs397508087
NM_000218.3(KCNQ1):c.1349A>G (p.Glu450Gly) rs1057518902
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.1906dup (p.Ala636fs) rs1464992494
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1]) rs397508107
NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3]) rs397508107
NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.3(KCNQ1):c.397G>A (p.Val133Ile) rs199473449
NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter) rs139042529
NM_000218.3(KCNQ1):c.796del (p.Leu266fs) rs397508125
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000218.3(KCNQ1):c.860C>T (p.Ala287Val) rs199472735
NM_000218.3(KCNQ1):c.921+1G>T rs397508130
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs) rs397508134
NM_000238.4(KCNH2):c.-29GGCCCGCCC[3] rs754605400
NM_000238.4(KCNH2):c.1225G>A (p.Val409Met) rs539146547
NM_000238.4(KCNH2):c.1500C>A (p.Ile500=) rs147126965
NM_000238.4(KCNH2):c.1603G>A (p.Val535Met) rs375872367
NM_000238.4(KCNH2):c.1733A>C (p.His578Pro) rs794728376
NM_000238.4(KCNH2):c.1871G>A (p.Ser624Asn) rs777410293
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser) rs199472957
NM_000238.4(KCNH2):c.2104C>T (p.Gln702Ter) rs794728382
NM_000238.4(KCNH2):c.227G>T (p.Arg76Leu) rs868054429
NM_000238.4(KCNH2):c.235G>A (p.Ala79Thr) rs794728494
NM_000238.4(KCNH2):c.2386G>T (p.Val796Leu) rs143335921
NM_000238.4(KCNH2):c.2405A>G (p.Asn802Ser) rs863224632
NM_000238.4(KCNH2):c.2457C>G (p.Asn819Lys) rs768725008
NM_000238.4(KCNH2):c.2582A>T (p.Asn861Ile) rs121912513
NM_000238.4(KCNH2):c.2647C>T (p.Arg883Trp) rs201765446
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) rs143512106
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.4(KCNH2):c.2659C>G (p.Arg887Gly) rs140279503
NM_000238.4(KCNH2):c.2696C>A (p.Thr899Lys) rs1480554629
NM_000238.4(KCNH2):c.2758C>G (p.Arg920Gly) rs199473438
NM_000238.4(KCNH2):c.2770G>A (p.Gly924Arg) rs794728397
NM_000238.4(KCNH2):c.2774G>A (p.Gly925Glu) rs794728398
NM_000238.4(KCNH2):c.2774G>C (p.Gly925Ala) rs794728398
NM_000238.4(KCNH2):c.2781G>T (p.Trp927Cys) rs866768546
NM_000238.4(KCNH2):c.2832G>C (p.Glu944Asp) rs1232364499
NM_000238.4(KCNH2):c.2931C>G (p.Cys977Trp) rs761585108
NM_000238.4(KCNH2):c.3105_3107dup (p.Gly1036dup) rs794728469
NM_000238.4(KCNH2):c.3140G>A (p.Arg1047His) rs36210421
NM_000238.4(KCNH2):c.3302C>T (p.Pro1101Leu) rs199473041
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.4(KCNH2):c.3406C>T (p.Leu1136Phe) rs1344656004
NM_000238.4(KCNH2):c.434C>T (p.Thr145Ile) rs1801497068
NM_000238.4(KCNH2):c.446G>C (p.Gly149Ala) rs199472865
NM_000238.4(KCNH2):c.451C>G (p.Pro151Ala) rs1060500674
NM_000238.4(KCNH2):c.551GCGCGGGCG[4] (p.Gly189_Ala190insGlyAlaGlyGlyAlaGly) rs551056698
NM_000238.4(KCNH2):c.553G>A (p.Ala185Thr) rs2117006639
NM_000238.4(KCNH2):c.617_618delinsTT (p.Ser206Ile) rs1060500660
NM_000238.4(KCNH2):c.670G>A (p.Gly224Arg) rs794728358
NM_000238.4(KCNH2):c.682G>C (p.Ala228Pro) rs989191027
NM_000238.4(KCNH2):c.684G>A (p.Ala228=) rs1350217087
NM_000238.4(KCNH2):c.695G>T (p.Arg232Leu) rs886039160
NM_000238.4(KCNH2):c.724C>G (p.Arg242Gly) rs199472872
NM_000238.4(KCNH2):c.750_751delinsCT (p.Pro251Ser) rs2117004283
NM_000238.4(KCNH2):c.872T>C (p.Met291Thr) rs199472881
NM_000238.4(KCNH2):c.872T>G (p.Met291Arg) rs199472881
NM_000238.4(KCNH2):c.881G>T (p.Gly294Val) rs199473549
NM_000238.4(KCNH2):c.899C>T (p.Pro300Leu) rs1801437545
NM_000238.4(KCNH2):c.959C>T (p.Ser320Leu) rs199472886
NM_000891.3(KCNJ2):c.*2270G>T rs545863243
NM_000891.3(KCNJ2):c.*2663T>C rs886053338
NM_000891.3(KCNJ2):c.*2775dup rs35656864
NM_000891.3(KCNJ2):c.-258C>T rs886053321
NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg) rs2144376499
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.3(KCNJ2):c.884T>C (p.Val295Ala) rs201162707
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) rs1060499872

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