ClinVar Miner

List of variants in gene BMPR1A reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

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Total variants: 25
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HGVS dbSNP
NM_004329.2(BMPR1A):c.-6T>C rs1047677696
NM_004329.2(BMPR1A):c.1048T>C (p.Tyr350His) rs749571434
NM_004329.2(BMPR1A):c.1098A>C (p.Lys366Asn) rs1060503397
NM_004329.2(BMPR1A):c.1153G>A (p.Val385Ile) rs1060503396
NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497
NM_004329.2(BMPR1A):c.1330T>C (p.Cys444Arg) rs774061725
NM_004329.2(BMPR1A):c.1348G>A (p.Val450Met) rs55932635
NM_004329.2(BMPR1A):c.1433G>A (p.Arg478His) rs113849804
NM_004329.2(BMPR1A):c.209A>T (p.Asp70Val) rs1060503394
NM_004329.2(BMPR1A):c.283A>G (p.Thr95Ala) rs1564715471
NM_004329.2(BMPR1A):c.418C>T (p.Pro140Ser) rs138478597
NM_004329.2(BMPR1A):c.478A>G (p.Met160Val) rs145101532
NM_004329.2(BMPR1A):c.49A>C (p.Ile17Leu) rs778886055
NM_004329.2(BMPR1A):c.5C>T (p.Pro2Leu) rs143248687
NM_004329.2(BMPR1A):c.620A>G (p.Lys207Arg) rs1554890228
NM_004329.2(BMPR1A):c.66A>C (p.Gln22His) rs786204152
NM_004329.2(BMPR1A):c.676G>T (p.Val226Phe) rs587780110
NM_004329.2(BMPR1A):c.729C>T (p.Gly243=) rs770821763
NM_004329.2(BMPR1A):c.732A>G (p.Arg244=) rs1554890761
NM_004329.2(BMPR1A):c.733T>A (p.Tyr245Asn) rs369012159
NM_004329.2(BMPR1A):c.750G>A (p.Met250Ile) rs1564723388
NM_004329.2(BMPR1A):c.785T>C (p.Val262Ala) rs770830310
NM_004329.2(BMPR1A):c.892G>A (p.Gly298Ser) rs1564724125
NM_004329.2(BMPR1A):c.941A>G (p.Asn314Ser) rs1564724169
NM_004329.2(BMPR1A):c.953A>G (p.Tyr318Cys) rs587778111

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