ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000046.5(ARSB):c.982G>C (p.Gly328Arg) rs748454316
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000263.4(NAGLU):c.534_535del (p.Tyr179fs) rs1567891258
NM_000290.4(PGAM2):c.533del (p.Gly178fs) rs747947171
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) rs185753709
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr) rs948490589
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys) rs1556405057
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375
NM_005609.4(PYGM):c.1044del (p.Glu349fs) rs1592412131
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448

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