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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)	rs397518413	0.00001
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	rs2145420502
NM_004329.3(BMPR1A):c.115_116insA (p.Ser39fs)	rs587783038
NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter)	rs1131691181
NM_004329.3(BMPR1A):c.1533del (p.Arg511fs)	rs1843700160
NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter)	rs1564714834
NM_005359.6(SMAD4):c.1148T>G (p.Ile383Arg)	rs377767355
NM_005359.6(SMAD4):c.1271dup (p.Asp424fs)	rs1555686616
NM_005359.6(SMAD4):c.1392del (p.Val465fs)	rs1910480814
NM_005359.6(SMAD4):c.1515del (p.Phe505fs)	rs864622252
NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp)	rs1555687572
NM_005359.6(SMAD4):c.502G>T (p.Gly168Ter)	rs1909795990
NM_005359.6(SMAD4):c.787+2T>C	rs1909895611

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