ClinVar Miner

List of variants reported as likely benign for congenital anomaly of cardiovascular system by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (333):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001106.4(ACVR2B):c.811-12G>A rs144849143 0.00302
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132 0.00269
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_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.2337C>T (p.Leu779=) rs146430244 0.00037
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

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