ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Institute of Human Genetics, Klinikum rechts der Isar

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000147.4(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser) rs1556016365
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp) rs1591705863
NM_002591.4(PCK1):c.724G>A (p.Gly242Arg) rs373906233
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525
NM_006516.3(SLC2A1):c.1199_1200insGAG (p.Pro401_Ala402insSer) rs1570590905
NM_006516.3(SLC2A1):c.1234T>G (p.Trp412Gly) rs1570590859
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys) rs757712371

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