ClinVar Miner

List of variants in gene BMPR1A reported as likely pathogenic

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Gene type:
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Total variants: 87
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HGVS dbSNP gnomAD frequency
NC_000010.10:g.(88659884_88671996)_(88679227_88681276)del
NC_000010.10:g.(?_88671987)_(88683476_?)del
NC_000010.11:g.(?_86838866)_(86838981_?)del
NC_000010.11:g.(?_86838866)_(86843510_?)del
NC_000010.11:g.(?_86912230)_(86919479_?)del
NM_001406583.1(BMPR1A):c.676-6del rs1064796072
NM_004329.3(BMPR1A):c.-1_2del (p.Met1del) rs1589757037
NM_004329.3(BMPR1A):c.1013C>A (p.Ala338Asp) rs199476086
NM_004329.3(BMPR1A):c.1021G>T (p.Gly341Cys) rs1554891077
NM_004329.3(BMPR1A):c.1036C>G (p.His346Asp)
NM_004329.3(BMPR1A):c.1037A>G (p.His346Arg) rs587782536
NM_004329.3(BMPR1A):c.1126dup (p.Cys376fs) rs2133593716
NM_004329.3(BMPR1A):c.115_116insA (p.Ser39fs) rs587783038
NM_004329.3(BMPR1A):c.1166+1G>A rs2133594398
NM_004329.3(BMPR1A):c.1166+2T>C rs750011688
NM_004329.3(BMPR1A):c.1166+2T>G rs750011688
NM_004329.3(BMPR1A):c.1166+731A>G
NM_004329.3(BMPR1A):c.1167-1G>A rs1589292553
NM_004329.3(BMPR1A):c.1217G>T (p.Arg406Leu) rs587780107
NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter) rs1131691181
NM_004329.3(BMPR1A):c.1231G>A (p.Glu411Lys) rs786202611
NM_004329.3(BMPR1A):c.1243_1244delinsTTTC (p.Glu415fs) rs1064795654
NM_004329.3(BMPR1A):c.1328G>A (p.Arg443His) rs876659155
NM_004329.3(BMPR1A):c.1330T>C (p.Cys444Arg) rs774061725
NM_004329.3(BMPR1A):c.1342+2T>C
NM_004329.3(BMPR1A):c.1342+2T>G rs1589292746
NM_004329.3(BMPR1A):c.1343-2A>G rs2133619660
NM_004329.3(BMPR1A):c.1347del (p.Ile449fs) rs1589293414
NM_004329.3(BMPR1A):c.1394del (p.Pro465fs)
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004329.3(BMPR1A):c.1409T>G (p.Met470Arg)
NM_004329.3(BMPR1A):c.1411del (p.Arg471fs)
NM_004329.3(BMPR1A):c.1438C>G (p.Arg480Gly)
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.3(BMPR1A):c.143dup (p.Thr49fs) rs1554888114
NM_004329.3(BMPR1A):c.1459T>A (p.Trp487Arg) rs112883778
NM_004329.3(BMPR1A):c.1473+1G>A rs1589293533
NM_004329.3(BMPR1A):c.1473+1G>T
NM_004329.3(BMPR1A):c.1473_1473+4del
NM_004329.3(BMPR1A):c.1474-2A>G rs587781407
NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter) rs786201040
NM_004329.3(BMPR1A):c.1508G>A (p.Cys503Tyr) rs869312790
NM_004329.3(BMPR1A):c.1533del (p.Arg511fs) rs1843700160
NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter) rs1564714834
NM_004329.3(BMPR1A):c.1A>C (p.Met1Leu) rs786203157
NM_004329.3(BMPR1A):c.230+1G>A rs1843128744
NM_004329.3(BMPR1A):c.231-1G>C rs1564715427
NM_004329.3(BMPR1A):c.231-2A>G
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile) rs1064793490
NM_004329.3(BMPR1A):c.245G>T (p.Cys82Phe) rs1554888310
NM_004329.3(BMPR1A):c.25A>T (p.Arg9Ter)
NM_004329.3(BMPR1A):c.295G>C (p.Gly99Arg)
NM_004329.3(BMPR1A):c.299G>A (p.Cys100Tyr)
NM_004329.3(BMPR1A):c.333+2T>A rs2133409163
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
NM_004329.3(BMPR1A):c.370T>A (p.Cys124Ser) rs199476087
NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg) rs199476087
NM_004329.3(BMPR1A):c.371G>A (p.Cys124Tyr) rs587782388
NM_004329.3(BMPR1A):c.39del (p.Tyr14fs) rs1564710641
NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile) rs869312758
NM_004329.3(BMPR1A):c.40dup (p.Tyr14fs) rs1554886815
NM_004329.3(BMPR1A):c.430+1G>T
NM_004329.3(BMPR1A):c.430G>C (p.Gly144Arg) rs876658573
NM_004329.3(BMPR1A):c.430_430+55del
NM_004329.3(BMPR1A):c.431-1G>A
NM_004329.3(BMPR1A):c.431-1G>C
NM_004329.3(BMPR1A):c.431-2A>T
NM_004329.3(BMPR1A):c.431-3C>G rs876659613
NM_004329.3(BMPR1A):c.530+1G>T
NM_004329.3(BMPR1A):c.531-1G>T rs1589288524
NM_004329.3(BMPR1A):c.614C>A (p.Ser205Ter)
NM_004329.3(BMPR1A):c.619A>G (p.Lys207Glu) rs2133545475
NM_004329.3(BMPR1A):c.675+1G>C rs878854672
NM_004329.3(BMPR1A):c.675+1G>T
NM_004329.3(BMPR1A):c.675+2T>C
NM_004329.3(BMPR1A):c.676-1G>A rs1554890734
NM_004329.3(BMPR1A):c.676-1G>C rs1554890734
NM_004329.3(BMPR1A):c.676-2A>G
NM_004329.3(BMPR1A):c.67G>A (p.Gly23Arg) rs1131691171
NM_004329.3(BMPR1A):c.68-1G>A rs1131691174
NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter) rs1554890743
NM_004329.3(BMPR1A):c.702del (p.Gln235fs)
NM_004329.3(BMPR1A):c.79_83del (p.Asp27fs)
NM_004329.3(BMPR1A):c.868+1G>A rs1589290813
NM_004329.3(BMPR1A):c.869-2_871del rs1564724111
NM_004329.3(BMPR1A):c.869-9A>G rs2133588734
NM_004329.3(BMPR1A):c.974dup (p.Leu326fs)

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