ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_002299.4(LCT):c.[4363C>T;4950C>A]
NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter) rs1570623881
NM_006516.3(SLC2A1):c.102T>G (p.Asn34Lys) rs1570601007
NM_018297.4(NGLY1):c.1481_1488del (p.His494fs) rs1575612023
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209

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