ClinVar Miner

List of variants in gene BMPR1A reported as pathogenic for Juvenile polyposis syndrome

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Gene type:
ClinVar version:
Total variants: 183
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter) rs764466442 0.00001
NC_000010.10:g.(?_88516246)_(88528678_?)del
NC_000010.10:g.(?_88598623)_(88635852_?)del
NC_000010.10:g.(?_88598623)_(88659889_?)del
NC_000010.10:g.(?_88651874)_(88651996_?)del
NC_000010.10:g.(?_88659541)_(88659893_?)del
NC_000010.10:g.(?_88669791)_88681457del
NC_000010.10:g.(?_88671987)_(88672151_?)del
NC_000010.10:g.(?_88676881)_(88679236_?)del
NC_000010.10:g.(?_88676881)_(88683476_?)del
NC_000010.10:g.(?_88678919)_(88679236_?)del
NC_000010.10:g.(?_88681437)_(88682621_?)del
NC_000010.10:g.(?_88683123)_(88683476_?)del
NC_000010.11:g.(?_86755016)_(86923719_?)del
NC_000010.11:g.(?_86875868)_(86876095_?)del
NC_000010.11:g.(?_86876009)_(86923729_?)del
NC_000010.11:g.(?_86912230)_(86917336_?)del
NM_004329.2(BMPR1A):c.676delG rs1064796072
NM_004329.3(BMPR1A):c.1010C>A (p.Ser337Ter) rs1554891075
NM_004329.3(BMPR1A):c.1013C>A (p.Ala338Asp) rs199476086
NM_004329.3(BMPR1A):c.1019del (p.Cys340fs)
NM_004329.3(BMPR1A):c.1022del (p.Gly341fs) rs2133591810
NM_004329.3(BMPR1A):c.1029C>A (p.Cys343Ter)
NM_004329.3(BMPR1A):c.1029_1032delinsGT (p.Cys343fs)
NM_004329.3(BMPR1A):c.1041del (p.Glu348fs)
NM_004329.3(BMPR1A):c.1057C>T (p.Gln353Ter) rs2133592454
NM_004329.3(BMPR1A):c.1061del (p.Gly354fs) rs1554891089
NM_004329.3(BMPR1A):c.1064del (p.Lys355fs) rs2133592586
NM_004329.3(BMPR1A):c.1100del (p.Asn367fs) rs1843627734
NM_004329.3(BMPR1A):c.1101_1102dup (p.Ile368fs) rs2133593245
NM_004329.3(BMPR1A):c.1119dup (p.Gly374fs) rs2133593569
NM_004329.3(BMPR1A):c.111delinsCCATGGCACTGGGAT (p.Asp38fs)
NM_004329.3(BMPR1A):c.111dup (p.Asp38fs)
NM_004329.3(BMPR1A):c.1127G>A (p.Cys376Tyr) rs199476088
NM_004329.3(BMPR1A):c.1127dup (p.Cys376fs)
NM_004329.3(BMPR1A):c.1131_1153dup (p.Val385fs) rs1843628465
NM_004329.3(BMPR1A):c.1131del (p.Cys376_Cys377insTer)
NM_004329.3(BMPR1A):c.1132_1133insCCTGGAG (p.Ile378fs)
NM_004329.3(BMPR1A):c.1151dup (p.Val385fs) rs2133594187
NM_004329.3(BMPR1A):c.1152del (p.Val385fs) rs1843628914
NM_004329.3(BMPR1A):c.1167-2A>G rs1843664505
NM_004329.3(BMPR1A):c.1171dup (p.Thr391fs)
NM_004329.3(BMPR1A):c.1193dup (p.Leu398fs) rs2133606135
NM_004329.3(BMPR1A):c.1208del (p.Gly403fs)
NM_004329.3(BMPR1A):c.121C>T (p.Gln41Ter)
NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter) rs1131691181
NM_004329.3(BMPR1A):c.1230del (p.Glu411fs)
NM_004329.3(BMPR1A):c.1231del (p.Glu411fs)
NM_004329.3(BMPR1A):c.1238del (p.Leu413fs)
NM_004329.3(BMPR1A):c.1254del (p.Asn418fs)
NM_004329.3(BMPR1A):c.1255A>T (p.Lys419Ter) rs2133607319
NM_004329.3(BMPR1A):c.1265dup (p.Gln423fs)
NM_004329.3(BMPR1A):c.1267del (p.Gln423fs) rs1589292655
NM_004329.3(BMPR1A):c.1275C>A (p.Tyr425Ter)
NM_004329.3(BMPR1A):c.127_137del (p.Lys43fs) rs2133395056
NM_004329.3(BMPR1A):c.128_137del (p.Lys43fs)
NM_004329.3(BMPR1A):c.1313G>A (p.Trp438Ter)
NM_004329.3(BMPR1A):c.1314G>A (p.Trp438Ter) rs1564725052
NM_004329.3(BMPR1A):c.1322dup (p.Arg442fs)
NM_004329.3(BMPR1A):c.133_134del (p.Glu45fs) rs1564714804
NM_004329.3(BMPR1A):c.1354G>T (p.Glu452Ter)
NM_004329.3(BMPR1A):c.1360C>T (p.Gln454Ter) rs1554891570
NM_004329.3(BMPR1A):c.1372dup (p.Tyr458fs) rs2133620284
NM_004329.3(BMPR1A):c.1373_1379del (p.Tyr458fs)
NM_004329.3(BMPR1A):c.1374C>A (p.Tyr458Ter) rs1564725603
NM_004329.3(BMPR1A):c.1394del (p.Pro465fs)
NM_004329.3(BMPR1A):c.139G>T (p.Gly47Ter) rs1564714809
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004329.3(BMPR1A):c.1421dup (p.Cys475fs)
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.3(BMPR1A):c.1461G>A (p.Trp487Ter) rs2133622305
NM_004329.3(BMPR1A):c.1473+1G>A rs1589293533
NM_004329.3(BMPR1A):c.1473+1G>C
NM_004329.3(BMPR1A):c.1473+2T>C rs1843697382
NM_004329.3(BMPR1A):c.1474-1G>C rs2133623802
NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter) rs786201040
NM_004329.3(BMPR1A):c.1511G>A (p.Trp504Ter) rs878854664
NM_004329.3(BMPR1A):c.156_165del (p.Glu53fs) rs2133395477
NM_004329.3(BMPR1A):c.158dup (p.Asp54fs)
NM_004329.3(BMPR1A):c.15C>A (p.Tyr5Ter) rs1392086533
NM_004329.3(BMPR1A):c.15C>G (p.Tyr5Ter)
NM_004329.3(BMPR1A):c.160del (p.Asp54fs) rs1131691183
NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter) rs1564714834
NM_004329.3(BMPR1A):c.176del (p.Phe58_Leu59insTer) rs786201038
NM_004329.3(BMPR1A):c.176dup (p.Leu59fs)
NM_004329.3(BMPR1A):c.181_182dup (p.Tyr62fs)
NM_004329.3(BMPR1A):c.184_187dup (p.Cys63fs) rs1589763427
NM_004329.3(BMPR1A):c.192_193del (p.Gly65fs)
NM_004329.3(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.3(BMPR1A):c.213_228del (p.Ala71_Ile72insTer) rs1064792985
NM_004329.3(BMPR1A):c.216dup (p.Asn73Ter) rs786201501
NM_004329.3(BMPR1A):c.244del (p.Cys82fs) rs1589764273
NM_004329.3(BMPR1A):c.247_251del (p.Phe83fs) rs786204187
NM_004329.3(BMPR1A):c.25A>T (p.Arg9Ter)
NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter) rs730881431
NM_004329.3(BMPR1A):c.262del (p.Glu88fs)
NM_004329.3(BMPR1A):c.275del (p.Gly92fs) rs1554888317
NM_004329.3(BMPR1A):c.294dup (p.Gly99fs)
NM_004329.3(BMPR1A):c.313G>T (p.Gly105Ter)
NM_004329.3(BMPR1A):c.338del (p.Ser113fs)
NM_004329.3(BMPR1A):c.349C>T (p.Gln117Ter)
NM_004329.3(BMPR1A):c.349dup (p.Gln117fs)
NM_004329.3(BMPR1A):c.357_360del (p.Arg120fs) rs2133453577
NM_004329.3(BMPR1A):c.360del (p.Thr121fs) rs1064794031
NM_004329.3(BMPR1A):c.364dup (p.Ile122fs)
NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg) rs199476087
NM_004329.3(BMPR1A):c.394C>T (p.Gln132Ter) rs2133454296
NM_004329.3(BMPR1A):c.39del (p.Tyr14fs) rs1564710641
NM_004329.3(BMPR1A):c.3G>T (p.Met1Ile) rs869312758
NM_004329.3(BMPR1A):c.3_4insACTCAGCTATACATTTACATCAGATCTTTTACAAGAAAATCTCACTGAATGATAGTCATTTAAATTGGTGAAGTAGCAAGACCAATTATTAAAGGTGACAGTACACAGGAAACATTACAATTGAACAATG (p.Pro2delinsThrGlnLeuTyrIleTyrIleArgSerPheThrArgLysSerHisTer)
NM_004329.3(BMPR1A):c.405dup (p.Pro136fs) rs876660442
NM_004329.3(BMPR1A):c.40dup (p.Tyr14fs) rs1554886815
NM_004329.3(BMPR1A):c.419_420del (p.Pro140fs)
NM_004329.3(BMPR1A):c.419del (p.Pro140fs) rs1554888986
NM_004329.3(BMPR1A):c.430+1G>A rs1843283551
NM_004329.3(BMPR1A):c.441_458delinsGA (p.Phe147fs) rs1131691179
NM_004329.3(BMPR1A):c.441del (p.Phe147fs)
NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs) rs1554886816
NM_004329.3(BMPR1A):c.454C>T (p.Arg152Ter) rs1131691178
NM_004329.3(BMPR1A):c.455del (p.Arg152fs) rs1843286694
NM_004329.3(BMPR1A):c.458G>A (p.Trp153Ter) rs1131691176
NM_004329.3(BMPR1A):c.483dup (p.Val162fs)
NM_004329.3(BMPR1A):c.485del (p.Val162fs)
NM_004329.3(BMPR1A):c.497_498del (p.Ala166fs)
NM_004329.3(BMPR1A):c.497del (p.Ala166fs) rs2133457292
NM_004329.3(BMPR1A):c.510del (p.Ser171fs)
NM_004329.3(BMPR1A):c.528C>A (p.Tyr176Ter)
NM_004329.3(BMPR1A):c.530+3A>G rs2133458164
NM_004329.3(BMPR1A):c.551C>G (p.Ser184Ter) rs1131691185
NM_004329.3(BMPR1A):c.566dup (p.Tyr189Ter) rs1564721929
NM_004329.3(BMPR1A):c.567C>A (p.Tyr189Ter) rs1554890213
NM_004329.3(BMPR1A):c.578dup (p.Leu193fs) rs1554890219
NM_004329.3(BMPR1A):c.583C>T (p.Gln195Ter) rs771910503
NM_004329.3(BMPR1A):c.587_612del (p.Asp196fs)
NM_004329.3(BMPR1A):c.634C>T (p.Gln212Ter)
NM_004329.3(BMPR1A):c.634del (p.Gln212fs)
NM_004329.3(BMPR1A):c.64C>T (p.Gln22Ter) rs1554886821
NM_004329.3(BMPR1A):c.650del (p.Gly217fs) rs1843504014
NM_004329.3(BMPR1A):c.67+1G>A
NM_004329.3(BMPR1A):c.671del (p.Leu224fs)
NM_004329.3(BMPR1A):c.674del (p.Leu225fs) rs1564722014
NM_004329.3(BMPR1A):c.674dup (p.Leu225fs)
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter) rs587782682
NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter) rs1554890743
NM_004329.3(BMPR1A):c.70C>T (p.Gln24Ter)
NM_004329.3(BMPR1A):c.715C>T (p.Gln239Ter) rs199476084
NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter) rs759363072
NM_004329.3(BMPR1A):c.731dup (p.Tyr245fs) rs1554890759
NM_004329.3(BMPR1A):c.735T>G (p.Tyr245Ter) rs1131691182
NM_004329.3(BMPR1A):c.746G>A (p.Trp249Ter)
NM_004329.3(BMPR1A):c.758G>A (p.Trp253Ter)
NM_004329.3(BMPR1A):c.767_777del (p.Glu256fs)
NM_004329.3(BMPR1A):c.771del (p.Val258fs) rs878854673
NM_004329.3(BMPR1A):c.772del (p.Val258fs)
NM_004329.3(BMPR1A):c.812G>A (p.Trp271Ter) rs199476085
NM_004329.3(BMPR1A):c.813G>A (p.Trp271Ter) rs1589290773
NM_004329.3(BMPR1A):c.813del (p.Trp271fs) rs2133577022
NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter) rs587782400
NM_004329.3(BMPR1A):c.826_827del (p.Glu276fs) rs587781928
NM_004329.3(BMPR1A):c.829del (p.Ile277fs) rs2133577213
NM_004329.3(BMPR1A):c.834C>A (p.Tyr278Ter) rs1230919713
NM_004329.3(BMPR1A):c.834C>G (p.Tyr278Ter) rs1230919713
NM_004329.3(BMPR1A):c.842_843del (p.Val281fs)
NM_004329.3(BMPR1A):c.847dup (p.Met283fs) rs1564723486
NM_004329.3(BMPR1A):c.864dup (p.Leu289fs) rs1554890815
NM_004329.3(BMPR1A):c.889A>T (p.Lys297Ter)
NM_004329.3(BMPR1A):c.897_1029del (p.Gly300fs) rs1843621548
NM_004329.3(BMPR1A):c.905G>A (p.Trp302Ter) rs1589291548
NM_004329.3(BMPR1A):c.910C>T (p.Gln304Ter) rs1404557708
NM_004329.3(BMPR1A):c.917_920dup (p.Ile308fs) rs1554891032
NM_004329.3(BMPR1A):c.924del (p.Thr309fs) rs2133589910
NM_004329.3(BMPR1A):c.934del (p.His312fs) rs1060503408
NM_004329.3(BMPR1A):c.943G>T (p.Gly315Ter)
NM_004329.3(BMPR1A):c.949_952del (p.Leu317fs) rs1060503409
NM_004329.3(BMPR1A):c.951_952dup (p.Tyr318fs)
NM_004329.3(BMPR1A):c.954dup (p.Asp319Ter) rs1843623596
NM_004329.3(BMPR1A):c.957dup (p.Phe320fs) rs1554891043
NM_004329.3(BMPR1A):c.961del (p.Phe320_Leu321insTer) rs1554891044
NM_004329.3(BMPR1A):c.972dup (p.Thr325fs)
NM_004329.3(BMPR1A):c.973_980del (p.Thr325fs)
NM_004329.3(BMPR1A):c.97dup (p.Thr33fs) rs2133394533
NM_004329.3(BMPR1A):c.985_991del (p.Arg329fs)
NM_004329.3(BMPR1A):c.987_992delinsTGTA (p.Arg329fs) rs1554891056

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