ClinVar Miner

List of variants in gene BMPR2 reported by Invitae

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Gene type:
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Total variants: 40
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HGVS dbSNP
NC_000002.11:g.(?_203332222)_(203379722_?)del
NC_000002.11:g.(?_203378422)_(203395697_?)del
NC_000002.11:g.(?_203378422)_(203407190_?)del
NC_000002.11:g.(?_203378432)_(203384934_?)del
NM_001204.6(BMPR2):c.77-?_418+?del
NM_001204.7(BMPR2):c.1125_1128+16del rs878854272
NM_001204.7(BMPR2):c.1128+1G>A rs863223420
NM_001204.7(BMPR2):c.1128+1G>C rs863223420
NM_001204.7(BMPR2):c.1129-3C>G rs748230358
NM_001204.7(BMPR2):c.1142_1143dup (p.Tyr382fs) rs1553509983
NM_001204.7(BMPR2):c.1148del (p.Met383fs) rs1553509984
NM_001204.7(BMPR2):c.1276G>A (p.Gly426Arg) rs869025367
NM_001204.7(BMPR2):c.1284C>G (p.Ser428=) rs772817229
NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) rs1060502576
NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp) rs1060502583
NM_001204.7(BMPR2):c.1513dup (p.Met505fs) rs1559073178
NM_001204.7(BMPR2):c.1536del (p.Lys512fs)
NM_001204.7(BMPR2):c.1662_1663CT[1] (p.Ser555fs)
NM_001204.7(BMPR2):c.1914A>G (p.Thr638=) rs1553512773
NM_001204.7(BMPR2):c.2216del (p.Pro739fs)
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545
NM_001204.7(BMPR2):c.248-2A>G rs1085307193
NM_001204.7(BMPR2):c.2580del (p.Asn861fs) rs1085307395
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001204.7(BMPR2):c.2656C>T (p.Arg886Cys) rs148770894
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.2887G>T (p.Gly963Cys) rs146027217
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln) rs148099152
NM_001204.7(BMPR2):c.3012C>T (p.Gly1004=) rs750107486
NM_001204.7(BMPR2):c.340C>T (p.Arg114Cys) rs1553503554
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) rs1085307154
NM_001204.7(BMPR2):c.600A>C (p.Leu200=) rs55722784
NM_001204.7(BMPR2):c.621+1G>T rs1553508321
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.673C>T (p.Arg225Cys) rs1349280349
NM_001204.7(BMPR2):c.674G>A (p.Arg225His) rs148682262
NM_001204.7(BMPR2):c.690_691delinsT (p.Lys230fs) rs1085307253
NM_001204.7(BMPR2):c.86A>G (p.Asn29Ser) rs112862820
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) rs1060502581
NM_001204.7(BMPR2):c.968-5A>G rs1060502584

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