ClinVar Miner

List of variants reported as pathogenic for Juvenile polyposis syndrome by Myriad Genetics, Inc.

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter) rs764466442 0.00001
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.1061del (p.Gly354fs) rs1554891089
NM_004329.3(BMPR1A):c.111dup (p.Asp38fs)
NM_004329.3(BMPR1A):c.1127dup (p.Cys376fs)
NM_004329.3(BMPR1A):c.1208del (p.Gly403fs)
NM_004329.3(BMPR1A):c.1230del (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.1275C>A (p.Tyr425Ter)
NM_004329.3(BMPR1A):c.128_137del (p.Lys43fs)
NM_004329.3(BMPR1A):c.1313G>A (p.Trp438Ter)
NM_004329.3(BMPR1A):c.139G>T (p.Gly47Ter) rs1564714809
NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter) rs786201040
NM_004329.3(BMPR1A):c.158dup (p.Asp54fs)
NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter) rs1564714834
NM_004329.3(BMPR1A):c.176dup (p.Leu59fs)
NM_004329.3(BMPR1A):c.181_182dup (p.Tyr62fs)
NM_004329.3(BMPR1A):c.216dup (p.Asn73Ter) rs786201501
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.294dup (p.Gly99fs)
NM_004329.3(BMPR1A):c.349C>T (p.Gln117Ter)
NM_004329.3(BMPR1A):c.360del (p.Thr121fs) rs1064794031
NM_004329.3(BMPR1A):c.394C>T (p.Gln132Ter) rs2133454296
NM_004329.3(BMPR1A):c.39del (p.Tyr14fs) rs1564710641
NM_004329.3(BMPR1A):c.405dup (p.Pro136fs) rs876660442
NM_004329.3(BMPR1A):c.419_420del (p.Pro140fs)
NM_004329.3(BMPR1A):c.441del (p.Phe147fs)
NM_004329.3(BMPR1A):c.454C>T (p.Arg152Ter) rs1131691178
NM_004329.3(BMPR1A):c.485del (p.Val162fs)
NM_004329.3(BMPR1A):c.528C>A (p.Tyr176Ter)
NM_004329.3(BMPR1A):c.551C>G (p.Ser184Ter) rs1131691185
NM_004329.3(BMPR1A):c.578dup (p.Leu193fs) rs1554890219
NM_004329.3(BMPR1A):c.587_612del (p.Asp196fs)
NM_004329.3(BMPR1A):c.634del (p.Gln212fs)
NM_004329.3(BMPR1A):c.64C>T (p.Gln22Ter) rs1554886821
NM_004329.3(BMPR1A):c.671del (p.Leu224fs)
NM_004329.3(BMPR1A):c.674dup (p.Leu225fs)
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter) rs587782682
NM_004329.3(BMPR1A):c.767_777del (p.Glu256fs)
NM_004329.3(BMPR1A):c.772del (p.Val258fs)
NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter) rs587782400
NM_004329.3(BMPR1A):c.834C>G (p.Tyr278Ter) rs1230919713
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.972dup (p.Thr325fs)
NM_004329.3(BMPR1A):c.987_992delinsTGTA (p.Arg329fs) rs1554891056

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