ClinVar Miner

List of variants in gene BMPR1A reported as likely pathogenic

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Total variants: 34
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HGVS dbSNP
NC_000010.10:g.(?_88514773)_(88516676_?)del
NC_000010.10:g.(?_88514773)_(88516802_?)del
NC_000010.10:g.(?_88598623)_(88603267_?)del
NM_004329.2(BMPR1A):c.-1_2del (p.Met1del)
NM_004329.2(BMPR1A):c.1013C>A (p.Ala338Asp) rs199476086
NM_004329.2(BMPR1A):c.1021G>T (p.Gly341Cys) rs1554891077
NM_004329.2(BMPR1A):c.115_116insA (p.Ser39fs) rs587783038
NM_004329.2(BMPR1A):c.1217G>T (p.Arg406Leu) rs587780107
NM_004329.2(BMPR1A):c.1221C>G (p.Tyr407Ter) rs1131691181
NM_004329.2(BMPR1A):c.1243_1244delinsTTTC (p.Glu415fs) rs1064795654
NM_004329.2(BMPR1A):c.1342+2T>G
NM_004329.2(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.2(BMPR1A):c.143dup (p.Thr49fs) rs1554888114
NM_004329.2(BMPR1A):c.1474-2A>G rs587781407
NM_004329.2(BMPR1A):c.1480C>T (p.Arg494Ter) rs786201040
NM_004329.2(BMPR1A):c.170C>G (p.Pro57Arg) rs1057517610
NM_004329.2(BMPR1A):c.176T>A (p.Leu59Ter) rs1564714834
NM_004329.2(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.2(BMPR1A):c.231-1G>C rs1564715427
NM_004329.2(BMPR1A):c.245G>T (p.Cys82Phe) rs1554888310
NM_004329.2(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
NM_004329.2(BMPR1A):c.370T>C (p.Cys124Arg) rs199476087
NM_004329.2(BMPR1A):c.371G>A (p.Cys124Tyr) rs587782388
NM_004329.2(BMPR1A):c.39del (p.Tyr14fs) rs1564710641
NM_004329.2(BMPR1A):c.40dup (p.Tyr14fs) rs1554886815
NM_004329.2(BMPR1A):c.675+1G>C rs878854672
NM_004329.2(BMPR1A):c.676-1G>A rs1554890734
NM_004329.2(BMPR1A):c.676delG rs1064796072
NM_004329.2(BMPR1A):c.67G>A (p.Gly23Arg) rs1131691171
NM_004329.2(BMPR1A):c.68-1G>A rs1131691174
NM_004329.2(BMPR1A):c.68-1G>C rs1131691174
NM_004329.2(BMPR1A):c.697C>T (p.Gln233Ter) rs1554890743
NM_004329.2(BMPR1A):c.868+1G>A
NM_004329.2(BMPR1A):c.869-2_871del rs1564724111

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