List of variants in gene CERS3 studied for congenital non-bullous ichthyosiform erythroderma

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001378789.1(CERS3):c.1108A>G (p.Arg370Gly)	rs2439928	0.98616
NM_001378789.1(CERS3):c.159A>G (p.Arg53=)	rs1354332	0.77863
NM_001378789.1(CERS3):c.999+60G>A	rs12595207	0.69413
NM_001378789.1(CERS3):c.845+53C>T	rs12909732	0.42838
NM_001378789.1(CERS3):c.*75C>A	rs1023782
NM_001378789.1(CERS3):c.43T>C (p.Trp15Arg)	rs762679102
NM_001378789.1(CERS3):c.46del (p.Leu16fs)	rs1596772428
NM_001378789.1(CERS3):c.530C>T (p.Ser177Phe)	rs1178676096
NM_001378789.1(CERS3):c.540G>A (p.Trp180Ter)
NM_001378789.1(CERS3):c.609+1G>T	rs587776996
NM_001378789.1(CERS3):c.632A>T (p.His211Leu)
NM_001378789.1(CERS3):c.731G>A (p.Trp244Ter)	rs1567644030

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