List of variants in gene ERCC6L2 reported as uncertain significance 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_020207.7(ERCC6L2):c.163T>G (p.Leu55Val)	rs141719745	0.00148
NM_020207.7(ERCC6L2):c.1099T>C (p.Trp367Arg)	rs200807189	0.00042
NM_020207.7(ERCC6L2):c.1772A>G (p.Asn591Ser)	rs781374501	0.00007
NM_020207.7(ERCC6L2):c.2657C>T (p.Thr886Ile)	rs1180420541	0.00007
NM_020207.7(ERCC6L2):c.1097G>A (p.Gly366Asp)	rs140078259	0.00001
NM_020207.7(ERCC6L2):c.1555C>A (p.His519Asn)	rs759609268	0.00001
NM_020207.7(ERCC6L2):c.1414-18C>T
NM_020207.7(ERCC6L2):c.2155G>C (p.Gly719Arg)
NM_020207.7(ERCC6L2):c.3309dup (p.Ser1104fs)
NM_020207.7(ERCC6L2):c.3740_3741del (p.Ile1247fs)
NM_020207.7(ERCC6L2):c.4241A>G (p.Lys1414Arg)	rs1588056898
NM_020207.7(ERCC6L2):c.789-6_789-3del	rs754561683

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