ClinVar Miner

List of variants in gene BMPR1A reported as pathogenic by OMIM

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Total variants: 10
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HGVS dbSNP
BMPR1A, 1-BP DEL, 961C
BMPR1A, 11-BP DEL, CODON 42
BMPR1A, 4-BP DEL, 44TGTT
BMPR1A, DEL
NM_004329.2(BMPR1A):c.1013C>A (p.Ala338Asp) rs199476086
NM_004329.2(BMPR1A):c.1127G>A (p.Cys376Tyr) rs199476088
NM_004329.2(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004329.2(BMPR1A):c.370T>C (p.Cys124Arg) rs199476087
NM_004329.2(BMPR1A):c.715C>T (p.Gln239Ter) rs199476084
NM_004329.2(BMPR1A):c.812G>A (p.Trp271Ter) rs199476085

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