List of variants in gene SMAD4 reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.*11C>T	rs11663402	0.00538
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)	rs1801250	0.00228
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)	rs149755320	0.00071
NM_005359.6(SMAD4):c.424+5G>A	rs200772603	0.00010
NM_005359.6(SMAD4):c.1608A>G (p.Leu536=)	rs753128184	0.00005
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)	rs377119288	0.00005
NM_005359.5:c.-496_*1311dup
NM_005359.6(SMAD4):c.1131G>C (p.Glu377Asp)	rs1568208287
NM_005359.6(SMAD4):c.250-10A>T	rs1599182364

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