List of variants in gene SMAD4 reported as likely pathogenic for Generalized juvenile polyposis/juvenile polyposis coli

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)	rs397518413	0.00001
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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