ClinVar Miner

List of variants in gene BMPR1A reported as pathogenic by Ambry Genetics

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Total variants: 43
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HGVS dbSNP
NM_004329.2(BMPR1A):c.1010C>A (p.Ser337Ter) rs1554891075
NM_004329.2(BMPR1A):c.1058_1059dup (p.Gly354fs) rs1131691184
NM_004329.2(BMPR1A):c.1061del (p.Gly354fs) rs1554891089
NM_004329.2(BMPR1A):c.1081C>T (p.Arg361Ter) rs764466442
NM_004329.2(BMPR1A):c.1101del (p.Asn367fs) rs1554891102
NM_004329.2(BMPR1A):c.1221C>G (p.Tyr407Ter) rs1131691181
NM_004329.2(BMPR1A):c.1245_1246dup (p.Ser416fs) rs1554891331
NM_004329.2(BMPR1A):c.1360C>T (p.Gln454Ter) rs1554891570
NM_004329.2(BMPR1A):c.1401C>A (p.Tyr467Ter) rs149787558
NM_004329.2(BMPR1A):c.1460G>A (p.Trp487Ter) rs1131691175
NM_004329.2(BMPR1A):c.1480C>T (p.Arg494Ter) rs786201040
NM_004329.2(BMPR1A):c.1511G>A (p.Trp504Ter) rs878854664
NM_004329.2(BMPR1A):c.15C>A (p.Tyr5Ter) rs1392086533
NM_004329.2(BMPR1A):c.160del (p.Asp54fs) rs1131691183
NM_004329.2(BMPR1A):c.176del (p.Phe58_Leu59insTer) rs786201038
NM_004329.2(BMPR1A):c.199_203dup (p.Asp69fs) rs1554888134
NM_004329.2(BMPR1A):c.1A>C (p.Met1Leu) rs786203157
NM_004329.2(BMPR1A):c.216dup (p.Asn73Ter) rs786201501
NM_004329.2(BMPR1A):c.246C>A (p.Cys82Ter) rs759647230
NM_004329.2(BMPR1A):c.262G>T (p.Glu88Ter) rs730881431
NM_004329.2(BMPR1A):c.271C>T (p.Gln91Ter) rs878854667
NM_004329.2(BMPR1A):c.309T>G (p.Tyr103Ter) rs876658891
NM_004329.2(BMPR1A):c.325del (p.Gln109fs) rs1554888329
NM_004329.2(BMPR1A):c.360del (p.Thr121fs) rs1064794031
NM_004329.2(BMPR1A):c.367del (p.Glu123fs) rs1131691173
NM_004329.2(BMPR1A):c.373T>G (p.Cys125Gly) rs1131691180
NM_004329.2(BMPR1A):c.388T>C (p.Cys130Arg) rs1131691168
NM_004329.2(BMPR1A):c.405dup (p.Pro136fs) rs876660442
NM_004329.2(BMPR1A):c.420del (p.Val141fs) rs786201715
NM_004329.2(BMPR1A):c.441_458delinsGA (p.Phe147fs) rs1131691179
NM_004329.2(BMPR1A):c.454C>T (p.Arg152Ter) rs1131691178
NM_004329.2(BMPR1A):c.458G>A (p.Trp153Ter) rs1131691176
NM_004329.2(BMPR1A):c.481del (p.Ala161fs) rs1131691172
NM_004329.2(BMPR1A):c.551C>G (p.Ser184Ter) rs1131691185
NM_004329.2(BMPR1A):c.682C>T (p.Arg228Ter) rs587782682
NM_004329.2(BMPR1A):c.735T>G (p.Tyr245Ter) rs1131691182
NM_004329.2(BMPR1A):c.817C>T (p.Arg273Ter) rs587782400
NM_004329.2(BMPR1A):c.826_827del (p.Glu276fs) rs587781928
NM_004329.2(BMPR1A):c.874dup (p.Ile292fs) rs1554891016
NM_004329.2(BMPR1A):c.884delinsGTTCATAGCGG (p.Asp295delinsGlySerTer) rs876659988
NM_004329.2(BMPR1A):c.961del (p.Phe320_Leu321insTer) rs1554891044
NM_004329.2(BMPR1A):c.964A>T (p.Lys322Ter) rs1131691167
NM_004329.2:c.1373_1385delins5

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