ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Department of Genetics,Sultan Qaboos University Hospital, Oman

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000027.4(AGA):c.216del (p.Ser72_Val73insTer) rs1560950739
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011

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