List of variants in gene KRT5 reported as likely pathogenic

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000424.4(KRT5):c.1675C>T (p.Arg559Ter)	rs754242209	0.00009
NM_000424.4(KRT5):c.1474+3A>C	rs111448623
NM_000424.4(KRT5):c.434T>A (p.Val145Asp)	rs1555156480
NM_000424.4(KRT5):c.434T>G (p.Val145Gly)
NM_000424.4(KRT5):c.464T>A (p.Leu155Gln)
NM_000424.4(KRT5):c.482T>A (p.Ile161Asn)	rs58058996
NM_000424.4(KRT5):c.503A>T (p.Glu168Val)
NM_000424.4(KRT5):c.508G>T (p.Glu170Ter)
NM_000424.4(KRT5):c.527A>G (p.Asn176Ser)	rs59092197
NM_000424.4(KRT5):c.529A>T (p.Asn177Tyr)	rs1938679596
NM_000424.4(KRT5):c.548T>G (p.Ile183Ser)	rs267607661
NM_000424.4(KRT5):c.817del (p.Phe272_Val273insTer)	rs1565593355
NM_000424.4(KRT5):c.967G>A (p.Val323Met)
NM_000424.4(KRT5):c.974T>C (p.Leu325Pro)	rs58107458
NM_000424.4(KRT5):c.980T>C (p.Met327Thr)	rs58072617
NM_000424.4(KRT5):c.991C>T (p.Arg331Cys)	rs61297109
NM_000424.4(KRT5):c.992G>A (p.Arg331His)	rs56729325

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