List of variants in gene KRT14 studied for epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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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.88C>T (p.Arg30Cys)	rs201069984	0.00188
NM_000526.5(KRT14):c.612T>A (p.Tyr204Ter)	rs60725382	0.00002
NM_000526.5(KRT14):c.526-2A>C	rs200779504	0.00001
NM_000526.5(KRT14):c.766G>T (p.Glu256Ter)	rs528295894	0.00001
NM_000526.5(KRT14):c.92del (p.Ile31fs)	rs60231560	0.00001
NM_000526.5(KRT14):c.1186C>T (p.Gln396Ter)	rs58393329
NM_000526.5(KRT14):c.313_314del (p.Ala105fs)	rs57278315
NM_000526.5(KRT14):c.431A>C (p.Glu144Ala)	rs57121345

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