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

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

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_006121.4(KRT1):c.1424T>C (p.Leu475Pro)	rs137853225
NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys)	rs58420087
NM_006121.4(KRT1):c.1757dup (p.Tyr587fs)	rs2498629912
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.564C>A (p.Asn188Lys)	rs59429455
NM_006121.4(KRT1):c.623T>C (p.Leu208Pro)	rs61616632
NM_006121.4(KRT1):c.931G>C (p.Glu311Gln)	rs137853224

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