ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000181.4(GUSB):c.1834del (p.Gln612fs) rs1085307069
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr) rs113993987
NM_005271.5(GLUD1):c.446-7CCA[4] rs753723749

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