ClinVar Miner

List of variants in gene BMPR2 reported as uncertain significance for not provided

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln) rs148099152 0.00031
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
NM_001204.7(BMPR2):c.2887G>T (p.Gly963Cys) rs146027217 0.00014
NM_001204.7(BMPR2):c.2186G>C (p.Gly729Ala) rs201816099 0.00005
NM_001204.7(BMPR2):c.2228A>G (p.Tyr743Cys) rs148257675 0.00004
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001204.7(BMPR2):c.908G>A (p.Arg303His) rs200948870 0.00004
NM_001204.7(BMPR2):c.136A>G (p.Ile46Val) rs759804753 0.00001
NM_001204.7(BMPR2):c.276A>C (p.Gln92His) rs140683387 0.00001
GRCh37/hg19 2q33.1(chr2:203173085-203279249)x4
GRCh37/hg19 2q33.1-33.2(chr2:203248979-203361273)x3
NM_001204.7(BMPR2):c.104C>T (p.Ala35Val)
NM_001204.7(BMPR2):c.1087C>G (p.Leu363Val) rs781018234
NM_001204.7(BMPR2):c.1126G>A (p.Glu376Lys) rs1085307301
NM_001204.7(BMPR2):c.1250T>G (p.Phe417Cys)
NM_001204.7(BMPR2):c.1361C>T (p.Ser454Phe) rs1347010932
NM_001204.7(BMPR2):c.1379C>G (p.Pro460Arg) rs1574500050
NM_001204.7(BMPR2):c.1427T>G (p.Leu476Arg) rs1057522712
NM_001204.7(BMPR2):c.1535A>G (p.Lys512Arg) rs1085307364
NM_001204.7(BMPR2):c.1981G>C (p.Glu661Gln)
NM_001204.7(BMPR2):c.199T>C (p.Tyr67His) rs1559046623
NM_001204.7(BMPR2):c.2042C>G (p.Ser681Cys)
NM_001204.7(BMPR2):c.2164G>T (p.Asp722Tyr) rs1553512801
NM_001204.7(BMPR2):c.2169C>A (p.Phe723Leu)
NM_001204.7(BMPR2):c.2693G>A (p.Gly898Asp) rs2105712608
NM_001204.7(BMPR2):c.3108delinsAGT (p.Asn1036fs)
NM_001204.7(BMPR2):c.319T>C (p.Ser107Pro) rs1085307207
NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg) rs1574486033
NM_001204.7(BMPR2):c.967+17A>C rs2106008516
NM_001204.7(BMPR2):c.968-3C>G rs1085307280
NM_001204.7(BMPR2):c.968-5A>G rs1060502584

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