List of variants in gene LIG4 reported as likely 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)	rs104894419	0.00007
NM_206937.2(LIG4):c.1312T>C (p.Tyr438His)	rs886037777	0.00001
NM_206937.2(LIG4):c.1345A>C (p.Lys449Gln)	rs758694012	0.00001
NM_206937.2(LIG4):c.832C>T (p.Arg278Cys)	rs574912936	0.00001
NM_206937.2(LIG4):c.1103A>T (p.Asp368Val)	rs1220876973
NM_206937.2(LIG4):c.1282G>C (p.Gly428Arg)	rs2138974645
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter)	rs373938258
NM_206937.2(LIG4):c.220C>T (p.Gln74Ter)
NM_206937.2(LIG4):c.2321T>C (p.Leu774Pro)	rs1060499662
NM_206937.2(LIG4):c.2401_2410del (p.Tyr801fs)	rs2138967445
NM_206937.2(LIG4):c.68T>C (p.Leu23Ser)
NM_206937.2(LIG4):c.743C>T (p.Pro248Leu)	rs2138978193
NM_206937.2(LIG4):c.832C>A (p.Arg278Ser)
NM_206937.2(LIG4):c.833G>C (p.Arg278Pro)
NM_206937.2(LIG4):c.845A>G (p.His282Arg)
NM_206937.2(LIG4):c.847A>G (p.Lys283Glu)	rs1594462950
NM_206937.2(LIG4):c.879_883del (p.Asn294fs)	rs751070095

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