ClinVar Miner

List of variants reported as uncertain significance for congenital heart disease by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934 0.00238
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
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_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320 0.00041
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg) rs371934474 0.00021
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) rs376051686 0.00021
NM_002471.4(MYH6):c.3383G>A (p.Arg1128His) rs376002621 0.00021
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln) rs201638005 0.00016
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_001148.6(ANK2):c.9853A>C (p.Ile3285Leu) rs144603824 0.00012
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg) rs373629059 0.00011
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) rs199472880 0.00009
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_014391.3(ANKRD1):c.806G>A (p.Arg269Gln) rs367609929 0.00009
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=) rs182422055 0.00006
NM_005751.5(AKAP9):c.10361G>A (p.Arg3454Gln) rs377026066 0.00005
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp) rs199473021 0.00004
NM_001005242.3(PKP2):c.1010G>A (p.Ser337Asn) rs144401285 0.00004
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479 0.00004
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn) rs373503739 0.00003
NM_001148.6(ANK2):c.10447G>A (p.Asp3483Asn) rs1323284534 0.00003
NM_005751.5(AKAP9):c.1981A>C (p.Ile661Leu) rs961090757 0.00003
NM_000890.5(KCNJ5):c.1186G>A (p.Ala396Thr) rs754816201 0.00002
NM_002230.4(JUP):c.647G>A (p.Arg216Gln) rs782498980 0.00001
NM_005751.5(AKAP9):c.11378C>G (p.Ser3793Cys) rs730880044 0.00001
NM_005751.5(AKAP9):c.3055T>G (p.Leu1019Val) rs769686940 0.00001
NM_005751.5(AKAP9):c.3329G>C (p.Arg1110Thr) rs146811417 0.00001
NM_005751.5(AKAP9):c.9710G>A (p.Arg3237Gln) rs757123477 0.00001
NM_032578.4(MYPN):c.2465G>A (p.Arg822Gln) rs372903698 0.00001
NM_000218.3(KCNQ1):c.584G>C (p.Arg195Pro) rs138362632
NM_000238.4(KCNH2):c.1703G>C (p.Trp568Ser) rs1554425880
NM_000238.4(KCNH2):c.206T>A (p.Leu69Gln) rs199473665
NM_000238.4(KCNH2):c.2398+3A>G rs1554425151
NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs) rs1554423346
NM_000257.4(MYH7):c.803T>G (p.Leu268Arg) rs1555338582
NM_000335.5(SCN5A):c.5811A>C (p.Glu1937Asp) rs2061011355
NM_001005242.3(PKP2):c.1878C>A (p.Asn626Lys) rs769943903
NM_001035.3(RYR2):c.9703A>T (p.Met3235Leu) rs773957909
NM_001103.4(ACTN2):c.1625T>C (p.Met542Thr) rs778713804
NM_001148.6(ANK2):c.11009C>T (p.Thr3670Ile) rs45608232
NM_002230.4(JUP):c.959G>A (p.Arg320His) rs781965392
NM_003098.3(SNTA1):c.-6G>A rs1990637527
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro) rs1581813405
NM_005751.5(AKAP9):c.11350C>T (p.Arg3784Trp) rs1818400785
NM_005751.5(AKAP9):c.5698C>T (p.Arg1900Ter) rs978219635
NM_005751.5(AKAP9):c.881T>G (p.Phe294Cys) rs1798317723
NM_007078.3(LDB3):c.1355C>A (p.Thr452Asn) rs1846876959

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