ClinVar Miner

List of variants studied for pachyonychia congenita 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005554.4(KRT6A):c.483T>C (p.Ala161=) rs711317 0.46623
NM_005554.4(KRT6A):c.495A>G (p.Glu165=) rs376545 0.34829
NM_005554.4(KRT6A):c.1424+18A>C rs12581781 0.31486
NM_005554.4(KRT6A):c.819T>C (p.Asp273=) rs12578949 0.30252
NM_005554.4(KRT6A):c.62A>G (p.Asn21Ser) rs17845411 0.29042
NM_005554.4(KRT6A):c.1203+13A>G rs56654203 0.02469
NM_005554.4(KRT6A):c.1157G>A (p.Arg386His) rs371739150 0.00006
NM_005554.4(KRT6A):c.1031T>C (p.Ile344Thr)
NM_005554.4(KRT6A):c.1078-10T>C rs1938231658
NM_005554.4(KRT6A):c.1381G>A (p.Glu461Lys) rs267607468
NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter) rs267607468
NM_005554.4(KRT6A):c.1382A>G (p.Glu461Gly)
NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro) rs57052654
NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg) rs57052654
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys) rs60554162
NM_005554.4(KRT6A):c.1460-1G>C
NM_005554.4(KRT6A):c.1460-2A>C rs113369052
NM_005554.4(KRT6A):c.1529G>T (p.Gly510Val) rs1195451609
NM_005554.4(KRT6A):c.1650G>T (p.Lys550Asn)
NM_005554.4(KRT6A):c.500T>A (p.Ile167Asn) rs57126929
NM_005554.4(KRT6A):c.510CAA[2] (p.Asn172del) rs606231214
NM_005554.4(KRT6A):c.511A>G (p.Asn171Asp) rs62635294
NM_005554.4(KRT6A):c.511A>T (p.Asn171Tyr) rs62635294
NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser) rs58556099
NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys) rs59685571
NM_005554.4(KRT6A):c.520T>A (p.Phe174Ile)
NM_005554.4(KRT6A):c.520T>G (p.Phe174Val) rs28933087
NM_005554.4(KRT6A):c.521T>C (p.Phe174Ser) rs61145796
NM_005554.4(KRT6A):c.817-2A>G

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.