ClinVar Miner

List of variants in gene BMPR1A reported as pathogenic by GeneDx

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Total variants: 8
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HGVS dbSNP
GRCh38/hg38 10q23.2(chr10:86787518-86892381)x1
NM_004329.2(BMPR1A):c.262G>T (p.Glu88Ter) rs730881431
NM_004329.2(BMPR1A):c.360delG (p.Thr121Glnfs) rs1064794031
NM_004329.2(BMPR1A):c.369delA (p.Glu123Aspfs) rs587780109
NM_004329.2(BMPR1A):c.64C>T (p.Gln22Ter) rs1554886821
NM_004329.2(BMPR1A):c.730C>T (p.Arg244Ter) rs759363072
NM_004329.2(BMPR1A):c.817C>T (p.Arg273Ter) rs587782400
NM_004329.2(BMPR1A):c.987_992delAGCCCTinsTGTA (p.Arg329Serfs) rs1554891056

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