ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NM_000027.4(AGA):c.281+13T>G rs34241758
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119
NM_000108.5(DLD):c.*18A>T rs8721
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000152.5(GAA):c.1438-19G>C rs2304844
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.5(GAA):c.2040+20A>G rs2304836
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310
NM_000152.5(GAA):c.2331+20G>A rs2304832
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_000152.5(GAA):c.547-4C>G rs3816256
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000152.5(GAA):c.955+12G>A rs2252455
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612
NM_000199.5(SGSH):c.663+17T>C rs6565647
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271
NM_000512.5(GALNS):c.634-20C>T rs17603837
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser) rs149088081
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291
NM_002294.3(LAMP2):c.-32_-24GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002591.4(PCK1):c.1140T>C (p.Gly380=) rs2070756
NM_013995.2(LAMP2):c.1091C>T (p.Thr364Ile) rs183781327
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058

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