ClinVar Miner

List of variants in gene BMPR1A reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 10
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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.1342+2T>G
NM_004329.2(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.2(BMPR1A):c.231-1G>C rs1564715427
NM_004329.2(BMPR1A):c.675+1G>C rs878854672
NM_004329.2(BMPR1A):c.868+1G>A
NM_004329.2(BMPR1A):c.869-2_871delAGGTT rs1564724111

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