ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.622G>A (p.Ala208Thr) rs1476637197 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000162.5(GCK):c.317A>C (p.Gln106Pro)
NM_000203.5(IDUA):c.390del (p.Phe130fs) rs1560545883
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg) rs1564955779
NM_000352.6(ABCC8):c.4168G>C (p.Ala1390Pro)
NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro)
NM_000458.4(HNF1B):c.896G>A (p.Trp299Ter) rs1598840996
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_000642.3(AGL):c.921del (p.Asn307fs) rs1571243862
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_003384.3(VRK1):c.156_160+3del rs1566696845
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932

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