ClinVar Miner

List of variants studied for brachydactyly-arterial hypertension syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
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>T (p.Gly449Val) rs794726868

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