ClinVar Miner

List of variants in gene BMPR2 reported by Wendy Chung Laboratory, Columbia University Medical Center

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Gene type:
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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.2140G>T (p.Ala714Ser) rs149067277 0.00031
NM_001204.7(BMPR2):c.775C>T (p.Arg259Cys) rs760996563 0.00004
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001204.7(BMPR2):c.1981G>T (p.Glu661Ter) rs759293027 0.00003
NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys) rs773135384 0.00003
NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg) rs863223425 0.00001
NM_001204.7(BMPR2):c.853-2A>G rs863223424 0.00001
NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) rs137852744
NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter) rs1085307301
NM_001204.7(BMPR2):c.1128+1G>A rs863223420
NM_001204.7(BMPR2):c.1128+1G>C rs863223420
NM_001204.7(BMPR2):c.1154C>G (p.Pro385Arg) rs2106019955
NM_001204.7(BMPR2):c.1175T>A (p.Val392Glu) rs1085307309
NM_001204.7(BMPR2):c.1271_1277delinsAGA (p.Phe424_Gly426delinsTer)
NM_001204.7(BMPR2):c.1276+1G>A rs767070218
NM_001204.7(BMPR2):c.1361C>T (p.Ser454Phe) rs1347010932
NM_001204.7(BMPR2):c.1397G>A (p.Trp466Ter) rs1085307346
NM_001204.7(BMPR2):c.1413+1G>A rs1085307349
NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter) rs1085307355
NM_001204.7(BMPR2):c.1460A>T (p.Asp487Val) rs1085307358
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) rs137852749
NM_001204.7(BMPR2):c.1483C>T (p.Gln495Ter) rs1085307360
NM_001204.7(BMPR2):c.1492G>A (p.Glu498Lys) rs757981921
NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp) rs1060502583
NM_001204.7(BMPR2):c.1524G>A (p.Trp508Ter) rs2106042229
NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter) rs886039219
NM_001204.7(BMPR2):c.1744A>T (p.Lys582Ter) rs2105711272
NM_001204.7(BMPR2):c.1748dup (p.Asn583fs) rs772920507
NM_001204.7(BMPR2):c.1939_1940del (p.Gln647fs) rs2105711563
NM_001204.7(BMPR2):c.1958del (p.Pro653fs) rs2105711575
NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys) rs1085307177
NM_001204.7(BMPR2):c.2073dup (p.Gln692fs) rs2105711699
NM_001204.7(BMPR2):c.211G>A (p.Glu71Lys) rs1553503208
NM_001204.7(BMPR2):c.2146G>T (p.Glu716Ter) rs2105711807
NM_001204.7(BMPR2):c.218C>A (p.Ser73Ter) rs137852742
NM_001204.7(BMPR2):c.2202del (p.Pro735fs) rs1688559190
NM_001204.7(BMPR2):c.2216del (p.Pro739fs) rs1574506949
NM_001204.7(BMPR2):c.2268del (p.Ser757fs) rs2105711988
NM_001204.7(BMPR2):c.2396dup (p.His800fs) rs2105712163
NM_001204.7(BMPR2):c.2410_2413del (p.Val804fs) rs1085307383
NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs) rs2105712248
NM_001204.7(BMPR2):c.2457_2464del (p.Ala820fs) rs2105712268
NM_001204.7(BMPR2):c.251G>A (p.Cys84Tyr) rs1085307197
NM_001204.7(BMPR2):c.255G>A (p.Trp85Ter) rs1085307198
NM_001204.7(BMPR2):c.2580del (p.Asn861fs) rs1085307395
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001204.7(BMPR2):c.2651_2652insAT (p.Asp885fs) rs2105712531
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.2730T>A (p.Cys910Ter) rs1085307400
NM_001204.7(BMPR2):c.2952del (p.Trp984fs) rs2105716153
NM_001204.7(BMPR2):c.297T>G (p.Cys99Trp) rs2105962254
NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr) rs1085307215
NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr) rs1085307216
NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp) rs137852743
NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg) rs137852750
NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser) rs863223426
NM_001204.7(BMPR2):c.39G>A (p.Trp13Ter) rs1085307152
NM_001204.7(BMPR2):c.419-1G>T rs2106002050
NM_001204.7(BMPR2):c.419-38del rs10714063
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) rs869025366
NM_001204.7(BMPR2):c.47G>A (p.Trp16Ter) rs1085307153
NM_001204.7(BMPR2):c.529+1G>A rs1553508187
NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg) rs1574486033
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter) rs886041324
NM_001204.7(BMPR2):c.76+1G>A rs1085307155
NM_001204.7(BMPR2):c.76+2T>C rs1085307156
NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter) rs863223419
NM_001204.7(BMPR2):c.852+1G>A rs1085307266
NM_001204.7(BMPR2):c.853-1G>A rs1085307267
NM_001204.7(BMPR2):c.935T>C (p.Leu312Pro) rs2106008434
NM_001204.7(BMPR2):c.947A>G (p.His316Arg) rs2106008443
NM_001204.7(BMPR2):c.967G>A (p.Asp323Asn) rs2106008499
NM_001204.7(BMPR2):c.995G>C (p.Arg332Pro) rs2106018078

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