ClinVar Miner

List of variants in gene BMPR2 reported as pathogenic by Invitae

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Total variants: 23
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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.1398G>A (p.Trp466Ter) rs1060502576
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.2216del (p.Pro739fs)
NM_001204.7(BMPR2):c.2580del (p.Asn861fs) rs1085307395
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) rs1085307154
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.690_691delinsT (p.Lys230fs) rs1085307253
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) rs1060502581

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