ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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HGVS dbSNP
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter) rs1064794288
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1153del (p.Arg385fs) rs1555600102
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) rs786204517
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395
NM_000152.5(GAA):c.1192dup (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292
NM_000152.5(GAA):c.1327-2A>G
NM_000152.5(GAA):c.1356del (p.Ser454fs)
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1654del (p.Leu552fs)
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) rs1057516426
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475
NM_000152.5(GAA):c.1754+1G>A rs886043399
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter) rs374470794
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) rs1057516826
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2161del (p.Glu721fs)
NM_000152.5(GAA):c.2167_2179delinsTGCGACGTGG (p.Val723_Leu727delinsCysAspValVal)
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter) rs1555601828
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.236_246del (p.Pro79fs) rs1057517165
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) rs369532274
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882
NM_000152.5(GAA):c.352C>T (p.Gln118Ter) rs1555598800
NM_000152.5(GAA):c.377G>A (p.Trp126Ter)
NM_000152.5(GAA):c.399C>A (p.Tyr133Ter)
NM_000152.5(GAA):c.482_483del (p.Pro161fs) rs764750389
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.722_723del (p.Phe241fs)
NM_000152.5(GAA):c.755dup (p.Pro253fs) rs1555599619
NM_000152.5(GAA):c.763C>T (p.Gln255Ter)
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.876C>G (p.Tyr292Ter) rs763216519
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039
NM_000152.5(GAA):c.955+1G>A
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960

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