List of variants in gene KRT10 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000421.5(KRT10):c.1264_1265delinsGA (p.Arg422Glu)	rs59075499
NM_000421.5(KRT10):c.1281C>A (p.Cys427Ter)	rs387906640
NM_000421.5(KRT10):c.1300C>T (p.Gln434Ter)	rs60035576
NM_000421.5(KRT10):c.1314_1315insC (p.Lys439fs)	rs267607379
NM_000421.5(KRT10):c.1315A>G (p.Lys439Glu)	rs61434181
NM_000421.5(KRT10):c.1325T>A (p.Leu442Gln)	rs58026994
NM_000421.5(KRT10):c.1337T>C (p.Ile446Thr)	rs62651994
NM_000421.5(KRT10):c.449T>C (p.Met150Thr)	rs58901407
NM_000421.5(KRT10):c.449T>G (p.Met150Arg)	rs58901407
NM_000421.5(KRT10):c.460A>C (p.Asn154His)	rs57784225
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys)	rs58852768
NM_000421.5(KRT10):c.467G>A (p.Arg156His)	rs58075662
NM_000421.5(KRT10):c.467G>T (p.Arg156Leu)	rs58075662
NM_000421.5(KRT10):c.478T>G (p.Tyr160Asp)	rs58414354
NM_000421.5(KRT10):c.482T>C (p.Leu161Ser)	rs60118264

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