ClinVar Miner

List of variants studied for congenital heart disease by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (289):
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ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001077653.2(TBX20):c.39T>C (p.Ser13=) rs336283 0.73657
NM_020774.4(MIB1):c.2393+10A>G rs11877131 0.09299
NM_020774.4(MIB1):c.1962+17A>G rs139079482 0.00792
NM_014391.3(ANKRD1):c.-17A>G rs79341122 0.00753
NM_020774.4(MIB1):c.1479+18A>G rs12605999 0.00637
NM_001077653.2(TBX20):c.1017A>C (p.Thr339=) rs112054378 0.00547
NM_005751.5(AKAP9):c.8485G>A (p.Glu2829Lys) rs149946443 0.00303
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132 0.00269
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_020774.4(MIB1):c.843A>T (p.Thr281=) rs137957940 0.00231
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=) rs142908806 0.00203
NM_014391.3(ANKRD1):c.208-16C>T rs79793575 0.00161
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=) rs56198613 0.00111
NM_020774.4(MIB1):c.1963-6G>A rs186680702 0.00108
NM_020774.4(MIB1):c.2337C>T (p.Leu779=) rs146430244 0.00037
NM_020774.4(MIB1):c.1830-18T>C rs201761957 0.00026
NM_014391.3(ANKRD1):c.652-10A>T rs397517252 0.00023
NM_020774.4(MIB1):c.1470C>T (p.Val490=) rs141701856 0.00023
NM_020774.4(MIB1):c.636+7A>C rs765948951 0.00010
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_020774.4(MIB1):c.1207G>T (p.Ala403Ser) rs1555692389

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