List of variants in gene LIG4 reported as likely pathogenic for DNA ligase IV deficiency; Multiple myeloma

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_206937.2(LIG4):c.1345A>C (p.Lys449Gln)	rs758694012	0.00001
NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter)	rs104894418	0.00001
NM_206937.2(LIG4):c.2585_2586del (p.His862fs)	rs1317409403	0.00001
NM_206937.2(LIG4):c.877C>T (p.Arg293Ter)	rs948441067	0.00001
NM_206937.2(LIG4):c.1746_1750del (p.Glu582fs)	rs759829934
NM_206937.2(LIG4):c.597_600del (p.Gln200fs)	rs752339466
NM_206937.2(LIG4):c.724_725del (p.Leu242fs)	rs2138978299
NM_206937.2(LIG4):c.879_883del (p.Asn294fs)	rs751070095

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