ClinVar Miner

List of variants in gene BMPR1A reported by University of Washington Department of Laboratory Medicine, University of Washington

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.333+784G>A rs145459545 0.00782
NM_004329.3(BMPR1A):c.68-3473T>C rs35134795 0.00550
NM_004329.3(BMPR1A):c.67+25T>C rs191498701 0.00083
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 0.00004
NM_004329.3(BMPR1A):c.67+2569T>C rs869312507 0.00002
NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys) rs879254272 0.00001
NM_004329.2(BMPR1A):c.-152-?_1473+?del
NM_004329.3(BMPR1A):c.1508G>A (p.Cys503Tyr) rs869312790
NM_004329.3(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.3(BMPR1A):c.286_289dup (p.Ala97fs) rs869312783
NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile) rs869312758
NM_004329.3(BMPR1A):c.531-3547G>A rs869312506

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