ClinVar Miner

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

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Total variants: 31
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HGVS dbSNP
NC_000010.11:g.(?_86755016)_(86756919_?)del
NC_000010.11:g.(?_86755016)_(86757045_?)del
NC_000010.11:g.(?_86838866)_(86838981_?)del
NC_000010.11:g.(?_86838866)_(86843510_?)del
NC_000010.11:g.(?_86912230)_(86919479_?)del
NM_000455.5(STK11):c.291-2_374+91del
NM_004329.2(BMPR1A):c.-1_2del (p.Met1del) rs1589757037
NM_004329.2(BMPR1A):c.115_116insA (p.Ser39fs) rs587783038
NM_004329.2(BMPR1A):c.1221C>G (p.Tyr407Ter) rs1131691181
NM_004329.2(BMPR1A):c.1342+2T>G rs1589292746
NM_004329.2(BMPR1A):c.176T>A (p.Leu59Ter) rs1564714834
NM_004329.2(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.2(BMPR1A):c.231-1G>C rs1564715427
NM_004329.2(BMPR1A):c.675+1G>C rs878854672
NM_004329.2(BMPR1A):c.868+1G>A rs1589290813
NM_004329.2(BMPR1A):c.869-2_871del rs1564724111
NM_004329.3(BMPR1A):c.1533del (p.Arg511fs)
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.6(SMAD4):c.1140-2A>C rs1568208715
NM_005359.6(SMAD4):c.1148T>G (p.Ile383Arg) rs377767355
NM_005359.6(SMAD4):c.1271dup (p.Asp424fs) rs1555686616
NM_005359.6(SMAD4):c.1308+1G>A rs587781618
NM_005359.6(SMAD4):c.1309-1G>A rs1555687377
NM_005359.6(SMAD4):c.1392del (p.Val465fs)
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005359.6(SMAD4):c.1515del (p.Phe505fs) rs864622252
NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp) rs1555687572
NM_005359.6(SMAD4):c.454+2T>C rs1555685248
NM_005359.6(SMAD4):c.502G>T (p.Gly168Ter)
NM_005359.6(SMAD4):c.787+2T>C
NM_005359.6(SMAD4):c.955+1del rs1555686086

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