List of variants in gene BMPR1B reported as uncertain significance for Inborn genetic diseases

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: 38

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001203.3(BMPR1B):c.769A>G (p.Asn257Asp)	rs201034260	0.00014
NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile)	rs200083866	0.00010
NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr)	rs143885868	0.00009
NM_001203.3(BMPR1B):c.229T>G (p.Ser77Ala)	rs200702974	0.00007
NM_001203.3(BMPR1B):c.289A>G (p.Thr97Ala)	rs759423600	0.00006
NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp)	rs778257341	0.00004
NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu)	rs1346115955	0.00004
NM_001203.3(BMPR1B):c.836C>T (p.Thr279Ile)	rs147336783	0.00004
NM_001203.3(BMPR1B):c.1396A>T (p.Met466Leu)	rs778929099	0.00003
NM_001203.3(BMPR1B):c.85G>T (p.Val29Phe)	rs773417270	0.00003
NM_001203.3(BMPR1B):c.121G>T (p.Asp41Tyr)	rs775495653	0.00002
NM_001203.3(BMPR1B):c.1394A>G (p.Gln465Arg)	rs369609245	0.00001
NM_001203.3(BMPR1B):c.370C>T (p.His124Tyr)	rs759803347	0.00001
NM_001203.3(BMPR1B):c.38C>T (p.Thr13Ile)	rs1374698890	0.00001
NM_001203.3(BMPR1B):c.391T>A (p.Ser131Thr)	rs561117066	0.00001
NM_001203.3(BMPR1B):c.680A>T (p.Lys227Met)	rs372556235	0.00001
NM_001203.3(BMPR1B):c.736G>A (p.Glu246Lys)	rs369168607	0.00001
NM_001203.3(BMPR1B):c.746A>T (p.Gln249Leu)	rs187868598	0.00001
NM_001203.3(BMPR1B):c.762G>T (p.Arg254Ser)	rs200198618	0.00001
NM_001203.3(BMPR1B):c.896A>G (p.Lys299Arg)	rs773095683	0.00001
NM_001203.3(BMPR1B):c.991C>G (p.Arg331Gly)	rs376126706	0.00001
NM_001203.3(BMPR1B):c.1090G>A (p.Val364Ile)	rs1416959162
NM_001203.3(BMPR1B):c.1096A>T (p.Ile366Leu)	rs767077000
NM_001203.3(BMPR1B):c.1234A>G (p.Arg412Gly)	rs1190618723
NM_001203.3(BMPR1B):c.1400G>C (p.Gly467Ala)	rs1305848208
NM_001203.3(BMPR1B):c.1471C>T (p.Leu491Phe)	rs748806114
NM_001203.3(BMPR1B):c.1501A>G (p.Lys501Glu)	rs1229797838
NM_001203.3(BMPR1B):c.245G>A (p.Arg82Gln)	rs2149277841
NM_001203.3(BMPR1B):c.360T>G (p.Asp120Glu)	rs2530206550
NM_001203.3(BMPR1B):c.425T>C (p.Ile142Thr)	rs2530207167
NM_001203.3(BMPR1B):c.428T>C (p.Ile143Thr)	rs1732713930
NM_001203.3(BMPR1B):c.509T>G (p.Ile170Ser)	rs1022330839
NM_001203.3(BMPR1B):c.581T>A (p.Leu194Gln)	rs767925715
NM_001203.3(BMPR1B):c.616A>G (p.Met206Val)	rs1344379581
NM_001203.3(BMPR1B):c.737A>C (p.Glu246Ala)	rs779737736
NM_001203.3(BMPR1B):c.738A>T (p.Glu246Asp)	rs748957679
NM_001203.3(BMPR1B):c.854G>A (p.Gly285Asp)
NM_001203.3(BMPR1B):c.88T>G (p.Leu30Val)	rs2530112652

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.