List of variants in gene KRT14 reported as pathogenic for ectodermal dysplasia syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000526.5(KRT14):c.19C>T (p.Gln7Ter)	rs267607391	0.00001
NM_000526.5(KRT14):c.17del (p.Arg6fs)	rs267607390
NM_000526.5(KRT14):c.374G>A (p.Arg125His)	rs58330629
NM_000526.5(KRT14):c.54C>A (p.Cys18Ter)	rs60831116

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