ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002591.4(PCK1):c.724G>A (p.Gly242Arg) rs373906233 0.00003
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)
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_000458.4(HNF1B):c.443C>A (p.Ser148Ter)
NM_001041.4(SI):c.2737-1G>C rs1294620045
NM_006516.4(SLC2A1):c.1199_1200insGAG (p.Arg400_Pro401insSer) rs1570590905
NM_006516.4(SLC2A1):c.1234T>G (p.Trp412Gly) rs1570590859

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