ClinVar Miner

List of variants studied for ventricular tachycardia by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu) rs572545726 0.00198
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00071
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_005751.5(AKAP9):c.3430T>C (p.Cys1144Arg) rs141039834 0.00040
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys) rs201352584 0.00019
NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) rs139542862 0.00013
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020 0.00011
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) rs549476254 0.00009
NM_003673.4(TCAP):c.448G>A (p.Gly150Ser) rs762850913 0.00009
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) rs371702432 0.00004
NM_001148.6(ANK2):c.2266G>A (p.Ala756Thr) rs368809372 0.00002
NM_004100.5(EYA4):c.347C>T (p.Ala116Val) rs747223436 0.00002
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met) rs375150075 0.00002
NM_000719.7(CACNA1C):c.3391G>A (p.Asp1131Asn) rs776318939 0.00001
NM_001148.6(ANK2):c.11300A>T (p.Glu3767Val) rs773893598 0.00001
NM_001267550.2(TTN):c.21911T>C (p.Ile7304Thr) rs766599708 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.89590A>G (p.Lys29864Glu) rs770839822 0.00001
NM_004415.4(DSP):c.479G>A (p.Arg160Gln) rs752941845 0.00001
NM_005477.3(HCN4):c.1840G>A (p.Glu614Lys) rs201319883 0.00001
NM_017636.4(TRPM4):c.2264G>A (p.Arg755His) rs751903628 0.00001
NM_033118.4(MYLK2):c.1093G>A (p.Gly365Arg) rs755753841 0.00001
NM_000335.5(SCN5A):c.4296+1dup rs1450434935
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001267550.2(TTN):c.51260G>A (p.Arg17087Lys) rs1576402466
NM_001267550.2(TTN):c.7954T>C (p.Trp2652Arg) rs1574584723
NM_002834.5(PTPN11):c.854-1G>C rs1592847299
NM_007078.3(LDB3):c.1364C>T (p.Pro455Leu) rs1589674796
NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) rs61733968

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