List of variants in gene ERCC6L2 reported as pathogenic for immune system disorder

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter)	rs147948835	0.00022
NM_020207.7(ERCC6L2):c.1203_1206del (p.Thr402fs)	rs886037662
NM_020207.7(ERCC6L2):c.1987C>T (p.Arg663Ter)	rs1226402321

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