ClinVar Miner

List of variants reported as uncertain significance for congenital heart disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (290):
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ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_001035.3(RYR2):c.8831-9A>C rs187977513 0.00026
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_001148.6(ANK2):c.7396C>T (p.Arg2466Cys) rs562115547 0.00004
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn) rs748399477 0.00004
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597 0.00003
NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg) rs786205848 0.00003
NM_001148.6(ANK2):c.157G>T (p.Gly53Trp) rs1328490060 0.00002
NM_001148.6(ANK2):c.533C>T (p.Ala178Val) rs901601971 0.00002
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245 0.00002
NM_007078.3(LDB3):c.494G>A (p.Arg165Gln) rs61857115 0.00002
NM_000089.4(COL1A2):c.280-7T>C rs750868020 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_001018005.2(TPM1):c.115-213G>C rs979999394 0.00001
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) rs137852954 0.00001
NM_001148.6(ANK2):c.3526G>T (p.Val1176Leu) rs777113752 0.00001
NM_001492.6(GDF1):c.137G>C (p.Arg46Pro) rs2055941159 0.00001
NM_005751.5(AKAP9):c.4367C>A (p.Ala1456Asp) rs763748052 0.00001
NM_016358.3(IRX4):c.1172C>T (p.Pro391Leu) rs1175075312 0.00001
NM_022114.4(PRDM16):c.1789G>A (p.Asp597Asn) rs753255714 0.00001
NM_022114.4(PRDM16):c.3724G>A (p.Glu1242Lys) rs772460000 0.00001
GRCh37/hg19 14q24.3(chr14:76105695-76107636)
NM_000214.3(JAG1):c.1613C>T (p.Ala538Val) rs2067321488
NM_000214.3(JAG1):c.289G>C (p.Gly97Arg) rs2067506326
NM_000214.3(JAG1):c.3256G>A (p.Val1086Met) rs1334024757
NM_000719.7(CACNA1C):c.1217+5G>A rs2099768300
NM_000719.7(CACNA1C):c.1523G>A (p.Arg508Gln) rs762091177
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_001018005.2(TPM1):c.391G>C (p.Glu131Gln) rs2035303241
NM_001018005.2(TPM1):c.678G>C (p.Lys226Asn) rs1343107860
NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu) rs1555673862
NM_001276345.2(TNNT2):c.451del (p.Arg151fs) rs730881115
NM_001276345.2(TNNT2):c.46C>A (p.Gln16Lys) rs1660718949
NM_001308093.3(GATA4):c.786+16G>T rs200555437
NM_001386795.1(DTNA):c.1743+2825dup rs778058745
NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala) rs1765343397
NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp) rs1057518947
NM_005378.6(MYCN):c.1226C>T (p.Pro409Leu) rs1553371013
NM_005751.5(AKAP9):c.5621C>T (p.Thr1874Ile) rs1809737574
NM_007078.3(LDB3):c.1678G>A (p.Gly560Ser) rs1846936455
NM_012082.4(ZFPM2):c.2238A>G (p.Leu746=) rs1814052830
NM_012082.4(ZFPM2):c.3269dup (p.Ser1091fs) rs1814103683
NM_022114.4(PRDM16):c.565A>G (p.Ser189Gly) rs1643176774
NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro) rs1556948950

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