ClinVar Miner

List of variants in gene BMPR2 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.2811G>A (p.Arg937=) rs1061157 0.08705
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545 0.02286
NM_001204.7(BMPR2):c.600A>C (p.Leu200=) rs55722784 0.01458
NM_001204.7(BMPR2):c.622-35A>T rs147197594 0.00155
NM_001204.7(BMPR2):c.63C>T (p.Val21=) rs149973695 0.00040
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln) rs148099152 0.00031
NM_001204.7(BMPR2):c.674G>A (p.Arg225His) rs148682262 0.00026
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
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.9C>A (p.Ser3=) rs549281044 0.00002
NM_001204.7(BMPR2):c.*621G>A rs1303164094 0.00001
NM_001204.7(BMPR2):c.1028del (p.Asn343fs) rs1688010642
NM_001204.7(BMPR2):c.1077_1078del (p.Gly360fs) rs1574493773
NM_001204.7(BMPR2):c.1128+1G>A rs863223420
NM_001204.7(BMPR2):c.12del (p.Leu5fs) rs1690174710
NM_001204.7(BMPR2):c.1342del (p.Asp448fs) rs1559070248
NM_001204.7(BMPR2):c.1376_1377del (p.Arg459fs) rs1085307342
NM_001204.7(BMPR2):c.1379C>G (p.Pro460Arg) rs1574500050
NM_001204.7(BMPR2):c.146del (p.Ser49fs) rs2105959713
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) rs137852749
NM_001204.7(BMPR2):c.1487G>A (p.Cys496Tyr) rs1085307362
NM_001204.7(BMPR2):c.1506del (p.Glu503fs) rs1553512523
NM_001204.7(BMPR2):c.1535A>G (p.Lys512Arg) rs1085307364
NM_001204.7(BMPR2):c.1659A>G (p.Glu553=) rs1688545784
NM_001204.7(BMPR2):c.1981G>C (p.Glu661Gln)
NM_001204.7(BMPR2):c.199T>C (p.Tyr67His) rs1559046623
NM_001204.7(BMPR2):c.2216del (p.Pro739fs) rs1574506949
NM_001204.7(BMPR2):c.2569del (p.Arg857fs) rs1688568929
NM_001204.7(BMPR2):c.2577T>C (p.Asn859=) rs1236150964
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.2797A>T (p.Arg933Ter) rs766741057
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.369del (p.Leu122_Cys123insTer) rs2105962382
NM_001204.7(BMPR2):c.38G>A (p.Trp13Ter) rs1085307151
NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg) rs1574486033
NM_001204.7(BMPR2):c.621+37C>G rs78779412
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.689_690del (p.Lys230fs) rs1085307251
NM_001204.7(BMPR2):c.712C>T (p.Gln238Ter) rs1559062859
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) rs1060502581
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) rs137852751

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