List of variants in gene combination ERCC4, LOC130058543 reported as pathogenic for autosomal recessive disease

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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_005236.3(ERCC4):c.148C>T (p.Gln50Ter)
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)	rs774510191
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)	rs1355878901
NM_005236.3(ERCC4):c.68del (p.Val23fs)

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