List of variants in gene LIG1 studied for immune system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000234.3(LIG1):c.140C>T (p.Ser47Phe)	rs41555118	0.00105
NM_000234.3(LIG1):c.2014C>T (p.Arg672Cys)	rs55950593	0.00026
NM_000234.3(LIG1):c.1331+6C>T	rs370406559	0.00021
NM_000234.3(LIG1):c.778C>T (p.Pro260Ser)	rs759755473	0.00012
NM_000234.3(LIG1):c.1922G>T (p.Arg641Leu)	rs34087182	0.00002
NM_000234.3(LIG1):c.1244del (p.Thr415fs)	rs778319960	0.00001
NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp)	rs121434561	0.00001
NM_000234.3(LIG1):c.1306del (p.His436fs)
NM_000234.3(LIG1):c.1696G>A (p.Glu566Lys)	rs121434560
NM_000234.3(LIG1):c.191T>C (p.Leu64Pro)
NM_000234.3(LIG1):c.2326G>A (p.Gly776Arg)
NM_000234.3(LIG1):c.2444del (p.Leu815fs)
NM_000234.3(LIG1):c.848C>T (p.Pro283Leu)
NM_000234.3(LIG1):c.97C>A (p.Pro33Thr)

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