ClinVar Miner

List of variants studied for cardiovascular disorder by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (1473):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 183
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_002471.4(MYH6):c.3979-2A>C rs1158854454 0.00172
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00037
NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile) rs201067849 0.00020
NM_003238.6(TGFB2):c.199G>A (p.Val67Met) rs201761868 0.00015
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341 0.00011
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln) rs371069660 0.00011
NM_019055.6(ROBO4):c.1471C>T (p.Arg491Cys) rs374471211 0.00010
NM_053025.4(MYLK):c.3901C>T (p.Arg1301Cys) rs368321325 0.00009
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys) rs369486891 0.00007
NM_014000.3(VCL):c.2531C>T (p.Pro844Leu) rs145393322 0.00006
NM_000238.4(KCNH2):c.443G>A (p.Arg148Gln) rs374912424 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000435.3(NOTCH3):c.3806G>T (p.Gly1269Val) rs781401262 0.00004
NM_001035.3(RYR2):c.950T>C (p.Met317Thr) rs367601258 0.00004
NM_002890.3(RASA1):c.2089C>G (p.Pro697Ala) rs759711265 0.00004
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe) rs565398652 0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met) rs780389237 0.00004
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter) rs750076188 0.00004
NM_000023.4(SGCA):c.307A>G (p.Ile103Val) rs370819630 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln) rs727504346 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_004444.5(EPHB4):c.1190G>A (p.Arg397His) rs538766032 0.00003
NM_000257.4(MYH7):c.5020G>A (p.Val1674Met) rs397516235 0.00002
NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys) rs762012668 0.00002
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_002474.3(MYH11):c.632C>T (p.Thr211Met) rs557865832 0.00002
NM_002775.5(HTRA1):c.1423C>G (p.Pro475Ala) rs769157908 0.00002
NM_006939.4(SOS2):c.1208G>C (p.Cys403Ser) rs201821194 0.00002
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248 0.00001
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser) rs1464447467 0.00001
NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg) rs767602851 0.00001
NM_000152.5(GAA):c.795T>A (p.Ser265Arg) rs779785396 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys) rs1250956327 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817 0.00001
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys) rs535839168 0.00001
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys) rs1230753325 0.00001
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met) rs780247153 0.00001
NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys) rs1422233407 0.00001
NM_001458.5(FLNC):c.7226G>A (p.Arg2409His) rs767279710 0.00001
NM_001613.4(ACTA2):c.623G>A (p.Arg208His) rs1057521703 0.00001
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys) rs121434528 0.00001
NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter) rs1279971868 0.00001
NM_015978.3(TNNI3K):c.380T>C (p.Ile127Thr) rs779098224 0.00001
NM_000018.4(ACADVL):c.1605+2T>A rs1597537351
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1247-7T>G
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.1359_1360delinsT (p.Arg454fs)
NM_000020.3(ACVRL1):c.1362del (p.Leu455fs)
NM_000020.3(ACVRL1):c.1377+1G>A rs863223406
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter) rs1940756257
NM_000020.3(ACVRL1):c.526-7C>G
NM_000020.3(ACVRL1):c.770T>C (p.Leu257Pro) rs2139071033
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs) rs1592224087
NM_000020.3(ACVRL1):c.988G>C (p.Asp330His)
NM_000238.4(KCNH2):c.959C>T (p.Ser320Leu) rs199472886
NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp) rs201278114
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.2219G>C (p.Gly740Ala)
NM_000256.3(MYBPC3):c.2708G>A (p.Gly903Asp) rs1007623141
NM_000257.4(MYH7):c.1971G>T (p.Lys657Asn) rs760736597
NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu) rs36211715
NM_000257.4(MYH7):c.5119A>G (p.Ile1707Val)
NM_000257.4(MYH7):c.5294T>A (p.Met1765Lys) rs1595072009
NM_000257.4(MYH7):c.595G>A (p.Ala199Thr) rs730880845
NM_000335.5(SCN5A):c.1385A>C (p.Glu462Ala) rs199473114
NM_000335.5(SCN5A):c.5899A>G (p.Ile1967Val)
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.1676G>A (p.Cys559Tyr) rs2145433195
NM_000435.3(NOTCH3):c.2791A>T (p.Ser931Cys) rs2145423783
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000484.4(APP):c.1969G>A (p.Gly657Arg)
NM_000501.4(ELN):c.1909G>T (p.Ala637Ser) rs536177240
NM_000702.4(ATP1A2):c.495+1G>A
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001018005.2(TPM1):c.377G>T (p.Gly126Val) rs1566962034
NM_001018005.2(TPM1):c.98A>C (p.Glu33Ala) rs886039444
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) rs794728838
NM_001077653.2(TBX20):c.1003G>A (p.Gly335Arg)
NM_001103.4(ACTN2):c.239C>G (p.Ser80Ter)
NM_001103.4(ACTN2):c.2575G>A (p.Ala859Thr) rs2102953709
NM_001103.4(ACTN2):c.698-2A>G rs2102916915
NM_001114753.3(ENG):c.1280T>G (p.Val427Gly)
NM_001114753.3(ENG):c.1311+2T>C
NM_001114753.3(ENG):c.1311+5G>A rs1830423993
NM_001114753.3(ENG):c.1429-1G>A rs2131876244
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_001114753.3(ENG):c.1614_1615del (p.Val539fs) rs2131875686
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.361-4_361-3delinsAG
NM_001114753.3(ENG):c.503T>A (p.Ile168Asn) rs2131890414
NM_001114753.3(ENG):c.523G>A (p.Ala175Thr)
NM_001114753.3(ENG):c.673C>T (p.Pro225Ser) rs1554810373
NM_001114753.3(ENG):c.774del (p.Pro257_Tyr258insTer)
NM_001114753.3(ENG):c.776T>G (p.Val259Gly) rs895393705
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_001114753.3(ENG):c.903_904dup (p.Glu302fs)
NM_001114753.3(ENG):c.934del (p.Ala312fs) rs2131886908
NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter) rs1588581338
NM_001134363.3(RBM20):c.122T>A (p.Met41Lys)
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001267550.2(TTN):c.3574C>T (p.Gln1192Ter)
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) rs770767998
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) rs397517576
NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)
NM_001267550.2(TTN):c.50375_50378del (p.Glu16792fs)
NM_001267550.2(TTN):c.52848del (p.Trp17616fs)
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val) rs397517637
NM_001267550.2(TTN):c.60407_60410dup (p.Ile20138fs)
NM_001267550.2(TTN):c.65696_65706del (p.Lys21899fs)
NM_001267550.2(TTN):c.9432C>T (p.Gly3144=)
NM_001267550.2(TTN):c.97647_97663dup (p.Thr32555delinsLysIleLysTyrLeuTer) rs2154141588
NM_001281740.3(FHOD3):c.1807T>C (p.Ser603Pro)
NM_001281740.3(FHOD3):c.2561_2566del (p.Ala854_Gly855del)
NM_001281740.3(FHOD3):c.3851C>T (p.Ala1284Val)
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter) rs766330686
NM_001458.5(FLNC):c.4467del (p.Glu1489fs)
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001845.6(COL4A1):c.3743G>A (p.Gly1248Glu) rs2139154591
NM_001845.6(COL4A1):c.4925T>A (p.Phe1642Tyr) rs1271389791
NM_001845.6(COL4A1):c.89G>A (p.Gly30Asp)
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001985.3(ETFB):c.58-57dup rs74357706
NM_002335.4(LRP5):c.34CTG[10] (p.Leu20dup) rs72555376
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser) rs1555360033
NM_003476.5(CSRP3):c.509-3_509-2del rs397516858
NM_003476.5(CSRP3):c.579_582del (p.Lys193fs) rs727502946
NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs) rs770642379
NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu) rs1398817791
NM_004415.4(DSP):c.3928A>T (p.Lys1310Ter)
NM_004444.5(EPHB4):c.1153dup (p.Asp385fs) rs761905713
NM_004444.5(EPHB4):c.2164C>T (p.Arg722Trp) rs927472085
NM_004444.5(EPHB4):c.2287C>T (p.Arg763Ter) rs1331371272
NM_004444.5(EPHB4):c.2467del (p.Asp823fs)
NM_004444.5(EPHB4):c.2484+1G>A rs927772349
NM_004444.5(EPHB4):c.2915C>A (p.Ala972Asp)
NM_004444.5(EPHB4):c.410A>T (p.Lys137Met) rs1813296662
NM_004612.4(TGFBR1):c.1216T>A (p.Leu406Ile) rs200062984
NM_004612.4(TGFBR1):c.973+1G>A rs863223818
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) rs80338938
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005902.4(SMAD3):c.1121T>A (p.Met374Lys) rs1555414240
NM_006766.5(KAT6A):c.2734C>T (p.Gln912Ter)
NM_006766.5(KAT6A):c.5001_5012dup (p.Ala1669_Pro1672dup) rs2150855509
NM_012186.3(FOXE3):c.398C>A (p.Pro133His) rs759971494
NM_012464.5(TLL1):c.1414C>T (p.Gln472Ter) rs746995698
NM_014000.3(VCL):c.1343T>C (p.Leu448Pro)
NM_015978.3(TNNI3K):c.19A>G (p.Arg7Gly)
NM_015978.3(TNNI3K):c.92T>G (p.Leu31Ter)
NM_020778.5(ALPK3):c.1204del (p.Ala402fs)
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.68C>G (p.Ala23Gly)
NM_033629.6(TREX1):c.814del (p.Asp272fs) rs2107265386
NM_053025.4(MYLK):c.3227A>C (p.Asn1076Thr) rs2108578399
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer) rs762515373
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) rs200067011
NM_170707.4(LMNA):c.174del (p.Leu59fs)
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_181486.4(TBX5):c.563C>T (p.Ala188Val)
NM_182961.4(SYNE1):c.17203-6del rs55633181

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