ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Centre for Human Genetics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_000151.4(G6PC1):c.208del (p.Trp70fs)
NM_000151.4(G6PC1):c.355C>G (p.His119Asp)
NM_000151.4(G6PC1):c.468G>A (p.Trp156Ter)
NM_000151.4(G6PC1):c.550G>T (p.Gly184Ter)
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg)
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) rs1601781024
NM_000293.3(PHKB):c.1364-2A>G
NM_000293.3:c.(76+1_77-1)_(1068+1_1069-1)del
NM_000293.3:c.(?_-1)_(1068+1_1069-1)del
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)
NM_000294.3(PHKG2):c.317T>A (p.Val106Glu) rs137853589
NM_000294.3(PHKG2):c.539del (p.Pro180fs)
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn)
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006
NM_000642.3(AGL):c.1423+1G>C
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)
NM_000642.3(AGL):c.2497C>T (p.Gln833Ter)
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419
NM_000642.3(AGL):c.2996del (p.Pro999fs)
NM_000642.3(AGL):c.3214G>T (p.Glu1072Ter)
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)
NM_000642.3(AGL):c.4371T>G (p.Tyr1457Ter)
NM_000642.3(AGL):c.947_948del (p.Leu316fs)
NM_001164277.2(SLC37A4):c.1287_1290del rs1592107594
NM_001164277.2(SLC37A4):c.945_964del
NM_002863.5(PYGL):c.1620+1G>C
NM_002863.5(PYGL):c.33dup (p.Arg12fs)
NM_002863.5(PYGL):c.72C>A (p.Asn24Lys)

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