ClinVar Miner

List of variants in gene BMPR2 reported as pathogenic by OMIM

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Total variants: 27
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HGVS dbSNP
BMPR2, 2-BP DEL, 1-BP INS, NT690
BMPR2, 5-BP DEL, NT1099
BMPR2, EX1-13DEL
BMPR2, EX10DEL
NM_001204.6(BMPR2):c.1040G>A (p.Cys347Tyr) rs137852744
NM_001204.6(BMPR2):c.120T>G (p.Tyr40Ter) rs137852755
NM_001204.6(BMPR2):c.1297C>T (p.Gln433Ter) rs137852756
NM_001204.6(BMPR2):c.1454A>G (p.Asp485Gly) rs137852745
NM_001204.6(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.6(BMPR2):c.1472G>A (p.Arg491Gln) rs137852749
NM_001204.6(BMPR2):c.218C>G (p.Ser73Ter) rs137852742
NM_001204.6(BMPR2):c.2580delT (p.N861Ifs*11) rs1085307395
NM_001204.6(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001204.6(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.6(BMPR2):c.2696G>C (p.Arg899Pro) rs137852752
NM_001204.6(BMPR2):c.354T>G (p.Cys118Trp) rs137852743
NM_001204.6(BMPR2):c.355delA (p.S119Afs*33) rs1085307219
NM_001204.6(BMPR2):c.367T>A (p.Cys123Ser) rs137852750
NM_001204.6(BMPR2):c.367T>C (p.Cys123Arg) rs137852750
NM_001204.6(BMPR2):c.44del (p.Pro15Hisfs) rs483352902
NM_001204.6(BMPR2):c.507C>A (p.Cys169Ter) rs137852747
NM_001204.6(BMPR2):c.545G>A (p.Gly182Asp) rs137852754
NM_001204.6(BMPR2):c.583G>T (p.Glu195Ter) rs397514497
NM_001204.6(BMPR2):c.604A>T (p.Asn202Tyr) rs397514496
NM_001204.6(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.6(BMPR2):c.77-?_247+?del (p.A26_Q82del)
NM_001204.6(BMPR2):c.994C>T (p.Arg332Ter) rs137852751

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