List of variants in gene KRT14 studied for ectodermal dysplasia syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000526.5(KRT14):c.188G>A (p.Cys63Tyr)	rs6503640	0.99456
NM_000526.5(KRT14):c.193C>T (p.Leu65=)	rs3826551	0.58145
NM_000526.5(KRT14):c.189C>T (p.Cys63=)	rs11551758	0.56357
NM_000526.5(KRT14):c.369T>C (p.Asn123=)	rs3826549	0.56333
NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr)	rs59780231	0.01556
NM_000526.5(KRT14):c.166C>T (p.Arg56Cys)	rs117484558	0.00519
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.355A>G (p.Met119Val)	rs61263401
NM_000526.5(KRT14):c.356T>G (p.Met119Arg)	rs28928893
NM_000526.5(KRT14):c.372C>A (p.Asp124Glu)	rs752374133
NM_000526.5(KRT14):c.374G>A (p.Arg125His)	rs58330629
NM_000526.5(KRT14):c.54C>A (p.Cys18Ter)	rs60831116

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