ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99480
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119 0.92759
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096 0.70681
NM_000199.5(SGSH):c.663+17T>C rs6565647 0.46516
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271 0.40780
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034 0.31021
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428 0.24049
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_000512.5(GALNS):c.634-20C>T rs17603837 0.08794
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853 0.00160
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln) rs201251295 0.00069
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665 0.00063
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser) rs149088081 0.00021
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590 0.00003
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_002076.4(GNS):c.253-10del rs201654719

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