ClinVar Miner

List of variants studied for Brachydactyly-arterial hypertension syndrome

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000921.5(PDE3A):c.1194C>T (p.Val398=) rs10743380 0.89795
NM_000921.5(PDE3A):c.2769+30C>T rs9284155 0.89678
NM_000921.5(PDE3A):c.1760+38A>C rs7304499 0.61326
NM_000921.5(PDE3A):c.2925+15T>C rs10743384 0.53300
NM_000921.5(PDE3A):c.1376G>A (p.Arg459Gln) rs141325069 0.00148
NM_000921.5(PDE3A):c.1324ACC[3] (p.Thr445del) rs1592115698
NM_000921.5(PDE3A):c.1333A>G (p.Thr445Ala) rs794726865
NM_000921.5(PDE3A):c.1334C>A (p.Thr445Asn) rs794726864
NM_000921.5(PDE3A):c.1334C>G (p.Thr445Ser) rs794726864
NM_000921.5(PDE3A):c.1339G>A (p.Ala447Thr) rs794726866
NM_000921.5(PDE3A):c.1340C>T (p.Ala447Val) rs794726867
NM_000921.5(PDE3A):c.1346G>A (p.Gly449Asp) rs794726868
NM_000921.5(PDE3A):c.1346G>T (p.Gly449Val) rs794726868
NM_000921.5(PDE3A):c.1903G>C (p.Asp635His)
NM_000921.5(PDE3A):c.507G>T (p.Gly169=)

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