List of variants in gene SMAD4 reported by Mayo Clinic Laboratories, Mayo Clinic

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: 24

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.*11C>T	rs11663402	0.00538
NM_005359.6(SMAD4):c.249+24A>G	rs77389132	0.00338
NM_005359.6(SMAD4):c.455-6A>G	rs181178864	0.00269
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)	rs145988618	0.00268
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)	rs1801250	0.00228
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)	rs140743238	0.00104
NM_005359.6(SMAD4):c.904+29A>T	rs543382977	0.00090
NM_005359.6(SMAD4):c.-3C>G	rs886053892	0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=)	rs765597059	0.00001
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu)	rs751985298	0.00001
NM_005359.6(SMAD4):c.940A>G (p.Ile314Val)	rs748622028	0.00001
NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter)	rs863224400
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)	rs80338963
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)	rs80338965
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs)	rs587780124
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)	rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)	rs281875321
NM_005359.6(SMAD4):c.263_267del (p.Lys88fs)	rs1060500739
NM_005359.6(SMAD4):c.380G>A (p.Cys127Tyr)	rs1555685182
NM_005359.6(SMAD4):c.752del (p.Asn251fs)	rs1555685925
NM_005359.6(SMAD4):c.828C>G (p.Tyr276Ter)	rs1909901558
NM_005359.6(SMAD4):c.904+45del	rs386387676
NM_005359.6(SMAD4):c.904+45dup	rs386387676
NM_005359.6(SMAD4):c.952C>G (p.Pro318Ala)	rs1909960667

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.