ClinVar Miner

List of variants in gene BMPR1A reported as pathogenic

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Total variants: 100
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HGVS dbSNP
BMPR1A, 1-BP DEL, 961C
BMPR1A, 11-BP DEL, CODON 42
BMPR1A, 4-BP DEL, 44TGTT
BMPR1A, DEL
GRCh38/hg38 10q23.2(chr10:86787518-86892381)x1
NC_000010.10:g.(?_88514773)_(88683486_?)del
NC_000010.10:g.(?_88598622)_(88659883_?)del
NC_000010.10:g.(?_88635766)_(88635852_?)del
NC_000010.10:g.(?_88635766)_(88683486_?)del
NC_000010.10:g.(?_88671987)_(88677093_?)del
NM_004329.2(BMPR1A):c.-152-?_*1469del
NM_004329.2(BMPR1A):c.-152-?_1473+?del
NM_004329.2(BMPR1A):c.-548_-268del rs1564673999
NM_004329.2(BMPR1A):c.1010C>A (p.Ser337Ter) rs1554891075
NM_004329.2(BMPR1A):c.1013C>A (p.Ala338Asp) rs199476086
NM_004329.2(BMPR1A):c.1058_1059dup (p.Gly354fs) rs1131691184
NM_004329.2(BMPR1A):c.1061del (p.Gly354fs) rs1554891089
NM_004329.2(BMPR1A):c.1065del (p.Lys355fs) rs1564724278
NM_004329.2(BMPR1A):c.1081C>T (p.Arg361Ter) rs764466442
NM_004329.2(BMPR1A):c.1101del (p.Asn367fs) rs1554891102
NM_004329.2(BMPR1A):c.110_111insCCATGGCACTGGGAT (p.Asp38_Ser39insHisGlyThrGlyIle)
NM_004329.2(BMPR1A):c.1127G>A (p.Cys376Tyr) rs199476088
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.1267del (p.Gln423fs)
NM_004329.2(BMPR1A):c.1314G>A (p.Trp438Ter) rs1564725052
NM_004329.2(BMPR1A):c.133_134del (p.Glu45fs) rs1564714804
NM_004329.2(BMPR1A):c.1360C>T (p.Gln454Ter) rs1554891570
NM_004329.2(BMPR1A):c.1374C>A (p.Tyr458Ter) rs1564725603
NM_004329.2(BMPR1A):c.139G>T (p.Gly47Ter) rs1564714809
NM_004329.2(BMPR1A):c.1401C>A (p.Tyr467Ter) rs149787558
NM_004329.2(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
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.150del (p.Ala51fs)
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.189C>A (p.Cys63Ter) rs1413243663
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.1A>G (p.Met1Val) rs786203157
NM_004329.2(BMPR1A):c.213_228del (p.Ala71_Ile72insTer) rs1064792985
NM_004329.2(BMPR1A):c.216dup (p.Asn73Ter) rs786201501
NM_004329.2(BMPR1A):c.244del (p.Cys82fs)
NM_004329.2(BMPR1A):c.246C>A (p.Cys82Ter) rs759647230
NM_004329.2(BMPR1A):c.247_251del (p.Phe83fs) rs786204187
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.275del (p.Gly92fs) rs1554888317
NM_004329.2(BMPR1A):c.286_289dup (p.Ala97fs) rs869312783
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.366_384del (p.Glu123fs) rs1554888970
NM_004329.2(BMPR1A):c.367del (p.Glu123fs) rs1131691173
NM_004329.2(BMPR1A):c.369del (p.Glu123fs) rs587780109
NM_004329.2(BMPR1A):c.370T>C (p.Cys124Arg) rs199476087
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.3G>C (p.Met1Ile) rs869312758
NM_004329.2(BMPR1A):c.405dup (p.Pro136fs) rs876660442
NM_004329.2(BMPR1A):c.419del (p.Pro140fs) rs1554888986
NM_004329.2(BMPR1A):c.420del (p.Val141fs) rs786201715
NM_004329.2(BMPR1A):c.441_458delinsGA (p.Phe147fs) rs1131691179
NM_004329.2(BMPR1A):c.44_47del (p.Leu15fs) rs1554886816
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.566dup (p.Tyr189Ter) rs1564721929
NM_004329.2(BMPR1A):c.567C>A (p.Tyr189Ter) rs1554890213
NM_004329.2(BMPR1A):c.578dup (p.Leu193fs) rs1554890219
NM_004329.2(BMPR1A):c.64C>T (p.Gln22Ter) rs1554886821
NM_004329.2(BMPR1A):c.674del (p.Leu225fs) rs1564722014
NM_004329.2(BMPR1A):c.682C>T (p.Arg228Ter) rs587782682
NM_004329.2(BMPR1A):c.715C>T (p.Gln239Ter) rs199476084
NM_004329.2(BMPR1A):c.730C>T (p.Arg244Ter) rs759363072
NM_004329.2(BMPR1A):c.731dup (p.Tyr245fs) rs1554890759
NM_004329.2(BMPR1A):c.735T>G (p.Tyr245Ter) rs1131691182
NM_004329.2(BMPR1A):c.771del (p.Val258fs) rs878854673
NM_004329.2(BMPR1A):c.812G>A (p.Trp271Ter) rs199476085
NM_004329.2(BMPR1A):c.813G>A (p.Trp271Ter)
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.834C>A (p.Tyr278Ter) rs1230919713
NM_004329.2(BMPR1A):c.847dup (p.Met283fs) rs1564723486
NM_004329.2(BMPR1A):c.864dup (p.Leu289fs) rs1554890815
NM_004329.2(BMPR1A):c.874dup (p.Ile292fs) rs1554891016
NM_004329.2(BMPR1A):c.884delinsGTTCATAGCGG (p.Asp295delinsGlySerTer) rs876659988
NM_004329.2(BMPR1A):c.910C>T (p.Gln304Ter) rs1404557708
NM_004329.2(BMPR1A):c.917_920dup (p.Ile308fs) rs1554891032
NM_004329.2(BMPR1A):c.934del (p.His312fs) rs1060503408
NM_004329.2(BMPR1A):c.947_948CT[1] (p.Leu317fs) rs1060503409
NM_004329.2(BMPR1A):c.957dup (p.Phe320fs) rs1554891043
NM_004329.2(BMPR1A):c.961del (p.Phe320_Leu321insTer) rs1554891044
NM_004329.2(BMPR1A):c.964A>T (p.Lys322Ter) rs1131691167
NM_004329.2(BMPR1A):c.987_992delinsTGTA (p.Arg329fs) rs1554891056
NM_004329.2:c.1373_1385delins5

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