List of variants in gene KRT12 studied for corneal dystrophy

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000223.4(KRT12):c.43C>T (p.Pro15Ser)	rs11650915	0.28816
NM_000223.4(KRT12):c.1148_1159del (p.Gln383_Val387delinsLeu)	rs2143257204
NM_000223.4(KRT12):c.1151T>C (p.Leu384Pro)	rs2143257255
NM_000223.4(KRT12):c.1181T>C (p.Leu394Pro)
NM_000223.4(KRT12):c.1285T>G (p.Tyr429Asp)	rs58162394
NM_000223.4(KRT12):c.386T>C (p.Met129Thr)	rs28936695
NM_000223.4(KRT12):c.395T>C (p.Leu132Pro)	rs886038212
NM_000223.4(KRT12):c.403A>G (p.Arg135Gly)	rs58410481
NM_000223.4(KRT12):c.404G>C (p.Arg135Thr)	rs57218384
NM_000223.4(KRT12):c.404G>T (p.Arg135Ile)	rs57218384
NM_000223.4(KRT12):c.419T>G (p.Leu140Arg)	rs58918655
NM_000223.4(KRT12):c.427G>C (p.Val143Leu)	rs58343600
NM_000223.4(KRT12):c.523G>A (p.Asp175Asn)
NM_000223.4(KRT12):c.988G>T (p.Glu330Ter)

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.