List of variants reported as likely benign for autosomal recessive congenital ichthyosis by Natera, Inc.

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

Total variants: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000359.3(TGM1):c.361C>T (p.Arg121Cys)	rs80145541	0.00384
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala)	rs140542428	0.00149
NM_000359.3(TGM1):c.411C>T (p.Asp137=)	rs145002586	0.00113
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser)	rs145197904	0.00106
NM_000359.3(TGM1):c.696G>A (p.Glu232=)	rs149605227	0.00059
NM_000359.3(TGM1):c.270T>A (p.Pro90=)	rs201400055	0.00052
NM_000359.3(TGM1):c.2160C>T (p.Thr720=)	rs139387079	0.00040
NM_000359.3(TGM1):c.660T>C (p.Phe220=)	rs201493499	0.00040
NM_000359.3(TGM1):c.167C>T (p.Ala56Val)	rs147479810	0.00024
NM_000359.3(TGM1):c.876+10G>A	rs201936986	0.00022
NM_000359.3(TGM1):c.60T>C (p.Pro20=)	rs145812304	0.00020
NM_000359.3(TGM1):c.216G>A (p.Gly72=)	rs771277378	0.00014
NM_000359.3(TGM1):c.540C>T (p.His180=)	rs145981439	0.00014
NM_000359.3(TGM1):c.885C>T (p.His295=)	rs186352813	0.00012
NM_000359.3(TGM1):c.297A>G (p.Ala99=)	rs41295340	0.00010
NM_000359.3(TGM1):c.177C>T (p.Asp59=)	rs8193031	0.00009
NM_000359.3(TGM1):c.1653C>T (p.Asp551=)	rs2855111	0.00007
NM_000359.3(TGM1):c.1761C>T (p.Asp587=)	rs751201972	0.00006
NM_000359.3(TGM1):c.2439T>C (p.Ser813=)	rs778402369	0.00005
NM_000359.3(TGM1):c.2337C>T (p.His779=)	rs755635993	0.00003
NM_000359.3(TGM1):c.21C>T (p.Ser7=)	rs150913268	0.00002
NM_000359.3(TGM1):c.1539C>T (p.Phe513=)	rs1383613653	0.00001
NM_000359.3(TGM1):c.2254C>T (p.Leu752=)	rs985569116	0.00001
NM_000359.3(TGM1):c.687C>T (p.Asp229=)	rs143352384
NM_000359.3(TGM1):c.78GCCAGA[4] (p.26EP[4])	rs762513810

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.