ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by NxGen MDx

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000152.5(GAA):c.1847dup (p.Asp616fs) rs1475559733
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro) rs200448421
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000352.6(ABCC8):c.11C>T (p.Ala4Val)
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del) rs760520781
NM_000525.4(KCNJ11):c.617G>A (p.Arg206His)
NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter) rs1291147781

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