List of variants in gene SMAD6 reported by CeGaT Center for Human Genetics Tuebingen

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005585.5(SMAD6):c.61G>A (p.Asp21Asn)	rs188799901	0.00505
NM_005585.5(SMAD6):c.956C>T (p.Ala319Val)	rs148705603	0.00015
NM_005585.5(SMAD6):c.374C>T (p.Thr125Ile)	rs759468399	0.00001
NM_005585.5(SMAD6):c.1084C>T (p.Gln362Ter)	rs1894556452
NM_005585.5(SMAD6):c.1108C>T (p.Gln370Ter)	rs2140681546
NM_005585.5(SMAD6):c.1219_1235dup (p.Asn413fs)
NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter)	rs1447391811
NM_005585.5(SMAD6):c.1306A>G (p.Ile436Val)	rs2140682106
NM_005585.5(SMAD6):c.1356del (p.Asp453fs)
NM_005585.5(SMAD6):c.1363G>A (p.Ala455Thr)
NM_005585.5(SMAD6):c.264C>G (p.Gly88=)	rs547033777
NM_005585.5(SMAD6):c.2T>C (p.Met1Thr)	rs1409145798
NM_005585.5(SMAD6):c.387_388del (p.Ser130fs)	rs2140581496
NM_005585.5(SMAD6):c.403_423del (p.Ala135_Ala141del)
NM_005585.5(SMAD6):c.40T>A (p.Trp14Arg)
NM_005585.5(SMAD6):c.665C>A (p.Pro222Gln)
NM_005585.5(SMAD6):c.695G>A (p.Trp232Ter)	rs1595757398
NM_005585.5(SMAD6):c.806_817+19del

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.