ClinVar Miner

List of variants reported as pathogenic for arterial duct anomaly by OMIM

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_001136239.4(PRDM6):c.1385A>G (p.Gln462Arg) rs879253872
NM_001136239.4(PRDM6):c.1646G>A (p.Arg549Gln) rs879255278
NM_001136239.4(PRDM6):c.788G>C (p.Cys263Ser) rs879255279
NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg) rs80338910
NM_003221.4(TFAP2B):c.435_438CCGG[1] (p.Pro147fs) rs879253871
NM_003221.4(TFAP2B):c.541-2A>T rs879253870
NM_003221.4(TFAP2B):c.601+5G>A rs80338911
NM_003221.4(TFAP2B):c.706C>A (p.Arg236Ser) rs80338912
NM_003221.4(TFAP2B):c.706C>T (p.Arg236Cys) rs80338912
NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp) rs80338914
NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln) rs80338915
NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys) rs80338917

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