ClinVar Miner

List of variants studied for carbohydrate metabolism disease by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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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_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.1367G>A (p.Arg456His) rs7503034
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_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665
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.423T>C (p.Ser141=) rs659497
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
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_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764
NM_001931.4(DLAT):c.381+22delT rs5794771
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.253-10del rs201654719
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413

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