ClinVar Miner

List of variants reported as benign 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: 12
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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_001931.4(DLAT):c.381+22delT rs5794771
NM_002076.4(GNS):c.253-10del rs201654719

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