ClinVar Miner

List of variants studied for congenital anomaly of cardiovascular system by Blueprint Genetics

Included ClinVar conditions (333):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198 0.00403
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025 0.00098
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr) rs374425919 0.00033
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_005751.5(AKAP9):c.1099G>A (p.Val367Met) rs138161478 0.00031
NM_002471.4(MYH6):c.1048G>A (p.Val350Ile) rs200260629 0.00025
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg) rs200121281 0.00021
NM_017636.4(TRPM4):c.1082T>G (p.Leu361Arg) rs148763371 0.00019
NM_001148.6(ANK2):c.9853A>C (p.Ile3285Leu) rs144603824 0.00012
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr) rs371878264 0.00008
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918 0.00006
NM_005751.5(AKAP9):c.7314A>T (p.Glu2438Asp) rs138468216 0.00006
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys) rs74315449 0.00006
NM_013266.4(CTNNA3):c.377G>A (p.Arg126His) rs730880071 0.00005
NM_013266.4(CTNNA3):c.35A>T (p.Asp12Val) rs730880069 0.00004
NM_000238.4(KCNH2):c.1067G>A (p.Arg356His) rs730880118 0.00003
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_004517.4(ILK):c.446G>A (p.Arg149Gln) rs869025437 0.00003
NM_024334.3(TMEM43):c.644A>C (p.His215Pro) rs730880225 0.00003
NM_000238.4(KCNH2):c.755G>A (p.Arg252Gln) rs730880117 0.00002
NM_001148.6(ANK2):c.6461G>A (p.Arg2154His) rs752318984 0.00002
NM_001148.6(ANK2):c.6584G>A (p.Ser2195Asn) rs730880047 0.00002
NM_001384.5(DPH2):c.601C>T (p.Arg201Cys) rs767455462 0.00002
NM_005751.5(AKAP9):c.3953-3T>C rs730880045 0.00002
NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu) rs199472902 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000238.4(KCNH2):c.2236G>T (p.Ala746Ser) rs751681463 0.00001
NM_000238.4(KCNH2):c.2734C>T (p.Arg912Trp) rs577847157 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000891.3(KCNJ2):c.1268G>A (p.Arg423Gln) rs745372216 0.00001
NM_001035.3(RYR2):c.5420G>A (p.Arg1807Gln) rs730880192 0.00001
NM_001384.5(DPH2):c.922C>T (p.Gln308Ter) rs755058688 0.00001
NM_001943.5(DSG2):c.2664C>A (p.Phe888Leu) rs773831600 0.00001
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val) rs767630308 0.00001
NM_005343.4(HRAS):c.277A>G (p.Ile93Val) rs587782949 0.00001
NM_005751.5(AKAP9):c.10022C>T (p.Ser3341Leu) rs587782932 0.00001
NM_005751.5(AKAP9):c.10163G>C (p.Arg3388Thr) rs765397069 0.00001
NM_182914.3(SYNE2):c.20630C>T (p.Ser6877Phe) rs548596262 0.00001
NM_000238.4(KCNH2):c.1402dup (p.Leu468fs) rs869025448
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_000238.4(KCNH2):c.2216A>G (p.His739Arg) rs869025446
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr) rs199472995
NM_000238.4(KCNH2):c.2692+8G>A rs200032281
NM_000238.4(KCNH2):c.453del (p.Thr152fs) rs761863251
NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter) rs730880116
NM_000238.4(KCNH2):c.77-5C>T rs72549419
NM_000238.4(KCNH2):c.774dup (p.Asp259fs) rs869025447
NM_000238.4(KCNH2):c.842dup (p.Ala282fs) rs730880374
NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_000256.3(MYBPC3):c.39C>G (p.Ser13Arg) rs730880136
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met) rs41315493
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_000719.7(CACNA1C):c.5534C>T (p.Thr1845Met) rs779315017
NM_000722.4(CACNA2D1):c.1666C>G (p.Arg556Gly) rs730880057
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His) rs199473369
NM_000891.3(KCNJ2):c.233A>G (p.Asp78Gly) rs199473371
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_001148.6(ANK2):c.343G>A (p.Val115Ile) rs869025359
NM_001148.6(ANK2):c.478A>T (p.Thr160Ser) rs764808318
NM_001148.6(ANK2):c.5609C>T (p.Ser1870Leu) rs869025360
NM_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg) rs786205745
NM_001308093.3(GATA4):c.841A>T (p.Thr281Ser) rs1356876573
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile) rs730880090
NM_005633.4(SOS1):c.1352C>A (p.Thr451Lys) rs730880218
NM_005751.5(AKAP9):c.11498C>G (p.Ser3833Ter) rs869025357
NM_005751.5(AKAP9):c.1489G>T (p.Glu497Ter) rs730880043
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397
NM_005751.5(AKAP9):c.9338dup (p.Ser3114fs) rs869025358
NM_014000.3(VCL):c.565G>A (p.Val189Met) rs151045204
NM_024422.6(DSC2):c.2197G>A (p.Ala733Thr) rs730880076
NM_201596.3(CACNB2):c.1206+4_1206+7dup rs1456201116

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