ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Division of Human Genetics, Children's Hospital of Philadelphia

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_016219.5(MAN1B1):c.1276_1277del (p.Gln426fs) rs794729645

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