List of variants in gene BMPR1A reported as pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004329.3(BMPR1A):c.1057C>T (p.Gln353Ter)	rs2133592454
NM_004329.3(BMPR1A):c.133_134del (p.Glu45fs)	rs1564714804
NM_004329.3(BMPR1A):c.373del (p.Cys125fs)	rs1589768027
NM_004329.3(BMPR1A):c.455del (p.Arg152fs)	rs1843286694
NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter)	rs759363072

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