List of variants in gene AGK reported as pathogenic for Sengers syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_018238.4(AGK):c.297+2T>C	rs765471424	0.00005
NM_018238.4(AGK):c.672C>A (p.Tyr224Ter)	rs771945804	0.00002
NM_018238.4(AGK):c.409C>T (p.Arg137Ter)	rs746709222	0.00001
NM_018238.4(AGK):c.412C>T (p.Arg138Ter)	rs1199705359	0.00001
NM_018238.4(AGK):c.841C>T (p.Arg281Ter)	rs387907025	0.00001
NC_000007.13:g.(?_141255267)_(141301100_?)del
NC_000007.13:g.(?_141292926)_(141293005_?)del
NM_018238.4(AGK):c.1035dup (p.Ile346fs)	rs1259937492
NM_018238.4(AGK):c.1039_1042dup (p.Ile348fs)	rs778049466
NM_018238.4(AGK):c.1131+5G>A	rs542547163
NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs)	rs1554405928
NM_018238.4(AGK):c.1166_1167dup (p.Tyr390fs)
NM_018238.4(AGK):c.1170T>G (p.Tyr390Ter)	rs1554405935
NM_018238.4(AGK):c.141+2T>C	rs1554399572
NM_018238.4(AGK):c.25C>T (p.Arg9Ter)
NM_018238.4(AGK):c.298-2A>G	rs1554401640
NM_018238.4(AGK):c.306T>G (p.Tyr102Ter)	rs1554401641
NM_018238.4(AGK):c.356dup (p.Ile120fs)
NM_018238.4(AGK):c.388G>T (p.Glu130Ter)
NM_018238.4(AGK):c.3G>C (p.Met1Ile)	rs863223895
NM_018238.4(AGK):c.409del (p.Arg137fs)
NM_018238.4(AGK):c.424-3C>G	rs766413410
NM_018238.4(AGK):c.517C>T (p.Gln173Ter)	rs387907024
NM_018238.4(AGK):c.518+1G>A
NM_018238.4(AGK):c.523_524del (p.Ile175fs)	rs1228071168
NM_018238.4(AGK):c.628C>T (p.Arg210Ter)
NM_018238.4(AGK):c.632G>A (p.Trp211Ter)	rs2116998520
NM_018238.4(AGK):c.672C>G (p.Tyr224Ter)	rs771945804
NM_018238.4(AGK):c.72G>A (p.Trp24Ter)	rs1587053244
NM_018238.4(AGK):c.860G>A (p.Trp287Ter)
NM_018238.4(AGK):c.975+1G>T	rs868431923

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