ClinVar Miner

List of variants studied for inherited glutathione synthetase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000178.4(GSS):c.*90A>G rs35747685 0.00563
NM_000178.4(GSS):c.-63G>C rs192442930 0.00445
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437 0.00292
NM_000178.4(GSS):c.768-3C>T rs184506175 0.00189
NM_000178.4(GSS):c.988C>T (p.Arg330Cys) rs148640446 0.00138
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln) rs150141794 0.00084
NM_000178.4(GSS):c.1158G>A (p.Leu386=) rs141866304 0.00073
NM_000178.4(GSS):c.816T>G (p.Pro272=) rs35051256 0.00073
NM_000178.4(GSS):c.-46A>G rs886056642 0.00052
NM_000178.4(GSS):c.1203C>T (p.Ile401=) rs138574949 0.00051
NM_000178.4(GSS):c.*68G>T rs36066003 0.00049
NM_000178.4(GSS):c.-80G>C rs570588543 0.00042
NM_000178.4(GSS):c.*2G>A rs36000727 0.00034
NM_000178.4(GSS):c.-16G>A rs575728230 0.00034
NM_000178.4(GSS):c.*31C>T rs369754600 0.00018
NM_000178.4(GSS):c.*20G>C rs765434534 0.00008
NM_000178.4(GSS):c.834+4G>C rs201359061 0.00008
NM_000178.4(GSS):c.1126G>A (p.Gly376Arg) rs146267300 0.00007
NM_000178.4(GSS):c.-18A>G rs886056640 0.00006
NM_000178.4(GSS):c.*181C>T rs773689812 0.00004
NM_000178.4(GSS):c.491G>A (p.Arg164Gln) rs121909307 0.00004
NM_000178.4(GSS):c.*183C>T rs1443092820 0.00003
NM_000178.4(GSS):c.957G>A (p.Met319Ile) rs202181009 0.00002
NM_000178.4(GSS):c.*185C>T rs2081370708 0.00001
NM_000178.4(GSS):c.1186A>G (p.Ile396Val) rs771438550 0.00001
NM_000178.4(GSS):c.754C>T (p.Arg252Ter) rs749741013 0.00001
NM_000178.4(GSS):c.*323G>A rs1017912804
NM_000178.4(GSS):c.*390G>T rs886056639
NM_000178.4(GSS):c.*391A>T rs886056638
NM_000178.4(GSS):c.*69G>T rs200882573
NM_000178.4(GSS):c.-29T>A rs886056641
NM_000178.4(GSS):c.-45G>C rs1387349471
NM_000178.4(GSS):c.1121T>G (p.Leu374Arg) rs2081383041
NM_000178.4(GSS):c.1260C>G (p.Val420=) rs369657861
NM_000178.4(GSS):c.448G>A (p.Ala150Thr) rs549377370
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000178.4(GSS):c.602C>T (p.Ser201Leu) rs1040178198
NM_000178.4(GSS):c.787G>A (p.Val263Met) rs1600381232

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