ClinVar Miner

List of variants reported as pathogenic for Generalized juvenile polyposis/juvenile polyposis coli

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter) rs764466442 0.00001
NC_000010.10:g.(?_88649809)_(89725239_?)del
NC_000010.11:g.(86838980_86875866)_(86876086_86890061)del
NC_000010.11:g.(?_86668692)_(86954160_?)del
NC_000010.11:g.(?_86755016)_(86923719_?)del
NC_000010.11:g.(?_86755016)_(86923729_?)del
NC_000010.11:g.(?_86755016)_(87965482_?)del
NC_000010.11:g.(?_86755016)_(87965564_?)del
NC_000010.11:g.(?_86838865)_(86900126_?)del
NC_000010.11:g.(?_86838866)_(87965482_?)del
NC_000010.11:g.(?_86875868)_(86876095_?)del
NC_000010.11:g.(?_86876009)_(86876095_?)del
NC_000010.11:g.(?_86876009)_(86923729_?)del
NC_000010.11:g.(?_86912230)_(86917336_?)del
NC_000018.10:g.(?_51029921)_(51078477_?)del
NC_000018.10:g.(?_51030213)_(51078467_?)del
NC_000018.10:g.(?_51030213)_(51078477_?)del
NC_000018.10:g.(?_51065417)_(51067193_?)del
NC_000018.10:g.(?_51067019)_(51085042_?)del
NC_000018.10:g.(?_51076628)_(51078477_?)del
NC_000018.9:g.(?_48573411)_(48604843_?)del
NM_000455.5(STK11):c.-2_290+1013del
NM_004329.2(BMPR1A):c.-152-?_*1469del
NM_004329.3(BMPR1A):c.-547_-268+1del rs1564673999
NM_004329.3(BMPR1A):c.110_111insCCATGGCACTGGGAT (p.Ser37_Asp38insHisGlyThrGlyIle) rs1589763343
NM_004329.3(BMPR1A):c.1114A>T (p.Lys372Ter) rs1315674155
NM_004329.3(BMPR1A):c.150del (p.Ala51fs) rs1589763393
NM_004329.3(BMPR1A):c.247_251del (p.Phe83fs) rs786204187
NM_004329.3(BMPR1A):c.366_384del (p.Glu123fs) rs1554888970
NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs) rs1554886816
NM_004329.3(BMPR1A):c.583C>T (p.Gln195Ter) rs771910503
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter) rs587782682
NM_004329.3(BMPR1A):c.771del (p.Val258fs) rs878854673
NM_005359.5(SMAD4):c.(?_-1)_(*1_?)del
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1308+1704_1565del
NM_005359.6(SMAD4):c.1308+2T>C rs1555686624
NM_005359.6(SMAD4):c.1354_1381dup (p.Gln461fs) rs786204125
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1547dup (p.Ser517fs) rs587783060
Single allele

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