ClinVar Miner

List of variants studied 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: 12
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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_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000263.4(NAGLU):c.1313T>G (p.Met438Arg) rs1567893399
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445
NM_000512.5(GALNS):c.909C>G (p.Asn303Lys) rs751446283
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_001164277.1(SLC37A4):c.752T>C (p.Leu251Pro) rs1565688326

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