ClinVar Miner

List of variants reported as uncertain significance for inherited glutathione metabolism disease by Revvity Omics, Revvity

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000637.5(GSR):c.697C>T (p.Arg233Cys) rs145851500 0.00036
NM_001498.4(GCLC):c.1531G>A (p.Ala511Thr) rs138610033 0.00032
NM_001498.4(GCLC):c.447-3T>C rs368905821 0.00023
NM_001498.4(GCLC):c.196C>T (p.Arg66Trp) rs143809584 0.00019
NM_000637.5(GSR):c.878C>G (p.Ser293Cys) rs762024253 0.00008
NM_000637.5(GSR):c.1054G>A (p.Asp352Asn) rs144097786 0.00007
NM_000637.5(GSR):c.476A>T (p.Gln159Leu) rs759955082 0.00007
NM_000637.5(GSR):c.1081G>A (p.Glu361Lys) rs779830894 0.00005
NM_000637.5(GSR):c.172G>T (p.Ala58Ser) rs779609339 0.00005
NM_000637.5(GSR):c.859G>A (p.Val287Met) rs750862066 0.00004
NM_000637.5(GSR):c.1171C>T (p.Arg391Ter) rs201693439 0.00003
NM_000637.5(GSR):c.1256C>T (p.Pro419Leu) rs746243432 0.00003
NM_000637.5(GSR):c.242G>A (p.Arg81His) rs767823911 0.00003
NM_000637.5(GSR):c.781A>G (p.Ile261Val) rs8190997 0.00003
NM_001498.4(GCLC):c.346G>A (p.Glu116Lys) rs551784270 0.00003
NM_001498.4(GCLC):c.94C>T (p.His32Tyr) rs1462744232 0.00003
NM_000637.5(GSR):c.1525G>A (p.Ala509Thr) rs1445798354 0.00002
NM_000637.5(GSR):c.395C>T (p.Pro132Leu) rs777862222 0.00002
NM_000637.5(GSR):c.1023C>G (p.Asp341Glu) rs148664639 0.00001
NM_000637.5(GSR):c.1060A>G (p.Lys354Glu) rs1327650371 0.00001
NM_000637.5(GSR):c.1358C>T (p.Ala453Val) rs769484105 0.00001
NM_000637.5(GSR):c.1486A>C (p.Lys496Gln) rs371380535 0.00001
NM_000637.5(GSR):c.372T>C (p.His124=) rs1348977169 0.00001
NM_001498.4(GCLC):c.1066G>A (p.Glu356Lys) rs768012609 0.00001
NM_001498.4(GCLC):c.1427G>T (p.Arg476Ile) rs765014293 0.00001
NM_001498.4(GCLC):c.935G>A (p.Arg312Gln) rs200246491 0.00001
NM_000637.5(GSR):c.1196A>C (p.Glu399Ala) rs765399679
NM_000637.5(GSR):c.433G>A (p.Glu145Lys) rs1803979416
NM_000637.5(GSR):c.439C>G (p.Arg147Gly) rs150594097
NM_000637.5(GSR):c.815C>T (p.Ser272Leu) rs1803440876
NM_000637.5(GSR):c.94G>T (p.Glu32Ter) rs770133920
NM_001498.4(GCLC):c.1004A>G (p.Tyr335Cys) rs957703275
NM_001498.4(GCLC):c.1106A>G (p.Gln369Arg) rs202143387
NM_001498.4(GCLC):c.1267A>G (p.Arg423Gly) rs2481338915
NM_001498.4(GCLC):c.1280G>C (p.Arg427Pro) rs2481338888
NM_001498.4(GCLC):c.1478-3C>G rs2481327634
NM_001498.4(GCLC):c.1538A>T (p.Glu513Val) rs1241928841
NM_001498.4(GCLC):c.1743C>G (p.Ile581Met) rs138321238
NM_001498.4(GCLC):c.364G>C (p.Ala122Pro) rs1368479227
NM_017570.5(OPLAH):c.491A>G (p.Gln164Arg) rs782182726

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