ClinVar Miner

List of variants reported as pathogenic for Sengers syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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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_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683 0.00001
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.(?_140434397)_(141759786_?)del
NC_000007.13:g.(?_141255267)_(141301100_?)del
NC_000007.13:g.(?_141292926)_(141293005_?)del
NC_000007.13:g.(?_141351305)_(141352724_?)del
NM_001151.4(SLC25A4):c.111+1G>A rs398122942
NM_001151.4(SLC25A4):c.116_137del (p.Gln39fs) rs886041080
NM_001151.4(SLC25A4):c.523del (p.Gln175fs) rs863224209
NM_001151.4(SLC25A4):c.707G>C (p.Arg236Pro) rs770816416
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.871C>T (p.Gln291Ter)
NM_018238.4(AGK):c.975+1G>T rs868431923

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