ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (305):
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ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg) rs201428088 0.00029
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg) rs748436953 0.00003
NM_000181.4(GUSB):c.1145G>A (p.Arg382His) rs764018631 0.00001
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591 0.00001
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs) rs1555934859
NM_000292.3(PHKA2):c.2249G>A (p.Trp750Ter)
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs) rs1599337939
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_001040616.3(LINS1):c.557_558del (p.Lys186fs) rs747412555
NM_001040616.3(LINS1):c.597del (p.Glu200fs) rs1198074890
NM_002299.4(LCT):c.4363C>T (p.Arg1455Cys) rs763006562
NM_002299.4(LCT):c.4950C>A (p.Ser1650Arg) rs1312031160
NM_002863.5(PYGL):c.508_510delinsTAA (p.Lys170Ter) rs1596047883
NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter) rs1570623881
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs) rs760262127
NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys) rs1570601007
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818

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