ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Breakthrough Genomics, Breakthrough Genomics

Included ClinVar conditions (301):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210 0.00001
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu) rs1554079333
NM_000162.5(GCK):c.1079C>A (p.Ser360Ter) rs2128819357
NM_000162.5(GCK):c.476T>A (p.Ile159Asn)
NM_000292.3(PHKA2):c.1661G>A (p.Trp554Ter)
NM_000294.3(PHKG2):c.925C>T (p.Arg309Trp)
NM_000352.6(ABCC8):c.2497C>T (p.Gln833Ter)
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) rs782322505
NM_001807.6(CEL):c.1974del (p.Val659fs) rs1341981506

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