ClinVar Miner

List of variants in gene BMPR1A reported by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.1013C>A (p.Ala338Asp) rs199476086
NM_004329.3(BMPR1A):c.1127G>A (p.Cys376Tyr) rs199476088
NM_004329.3(BMPR1A):c.127_137del (p.Lys43fs) rs2133395056
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg) rs199476087
NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs) rs1554886816
NM_004329.3(BMPR1A):c.715C>T (p.Gln239Ter) rs199476084
NM_004329.3(BMPR1A):c.812G>A (p.Trp271Ter) rs199476085
NM_004329.3(BMPR1A):c.961del (p.Phe320_Leu321insTer) rs1554891044

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