ClinVar Miner

List of variants in gene KRT1 reported as pathogenic for keratinopathic ichthyosis

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_006121.4(KRT1):c.1424T>C (p.Leu475Pro) rs137853225
NM_006121.4(KRT1):c.1433A>G (p.Glu478Gly) rs2121000699
NM_006121.4(KRT1):c.1435A>T (p.Ile479Phe) rs61218439
NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr) rs57837128
NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys) rs58420087
NM_006121.4(KRT1):c.1556del (p.Gly519fs) rs58373389
NM_006121.4(KRT1):c.1577del (p.Gly526fs)
NM_006121.4(KRT1):c.1609_1610delinsA (p.Gly537fs) rs59169454
NM_006121.4(KRT1):c.1757dup (p.Tyr587fs)
NM_006121.4(KRT1):c.1860dup (p.Gly621fs)
NM_006121.4(KRT1):c.1865dup (p.Val623fs) rs1555171158
NM_006121.4(KRT1):c.464T>A (p.Val155Asp) rs57959072
NM_006121.4(KRT1):c.482T>C (p.Leu161Pro) rs57695159
NM_006121.4(KRT1):c.560T>C (p.Leu187Pro)
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys) rs59429455
NM_006121.4(KRT1):c.591+1G>C rs267607422
NM_006121.4(KRT1):c.623T>C (p.Leu208Pro) rs61616632
NM_006121.4(KRT1):c.931G>C (p.Glu311Gln) rs137853224

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