List of variants studied for brachydactyly-arterial hypertension syndrome

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Total variants: 16

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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.2593T>G (p.Leu865Val)
NM_000921.5(PDE3A):c.507G>T (p.Gly169=)

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