List of variants in gene BMPR1A reported as uncertain significance by Counsyl

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: 23

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HGVS	dbSNP	gnomAD frequency
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)	rs113849804	0.00025
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)	rs576247658	0.00014
NM_004329.3(BMPR1A):c.676-6A>C	rs186999445	0.00014
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)	rs200951235	0.00007
NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser)	rs750840234	0.00006
NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn)	rs371904636	0.00005
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys)	rs587781332	0.00004
NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu)	rs368595543	0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)	rs587782578	0.00004
NM_004329.3(BMPR1A):c.569A>G (p.Asn190Ser)	rs574229174	0.00003
NM_004329.3(BMPR1A):c.911A>G (p.Gln304Arg)	rs730881434	0.00002
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn)	rs587781522	0.00001
NM_004329.3(BMPR1A):c.1432C>T (p.Arg478Cys)	rs372178531	0.00001
NM_004329.3(BMPR1A):c.59G>A (p.Arg20His)	rs759014147	0.00001
NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu)	rs143248687	0.00001
NM_004329.3(BMPR1A):c.676-3A>C	rs587782760	0.00001
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln)	rs191742018	0.00001
NM_004329.3(BMPR1A):c.1502C>G (p.Ser501Ter)	rs1554891649
NM_004329.3(BMPR1A):c.170C>G (p.Pro57Arg)	rs1057517610
NM_004329.3(BMPR1A):c.676-8C>A	rs1554890727
NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn)	rs369012159
NM_004329.3(BMPR1A):c.829A>G (p.Ile277Val)	rs1060503400
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)	rs587778111

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