List of variants in gene ST14 reported as pathogenic for autosomal recessive congenital 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_021978.4(ST14):c.2034del (p.Leu678fs)	rs587777263
NM_021978.4(ST14):c.2269+1G>A	rs587777262
NM_021978.4(ST14):c.2479G>A (p.Gly827Arg)	rs137852931
NM_021978.4(ST14):c.3G>A (p.Met1Ile)	rs137852932

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