ClinVar Miner

List of variants studied for carbohydrate metabolism disease by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_000147.4(FUCA1):c.1125G>A (p.Trp375Ter) rs794727774
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.461A>G (p.His154Arg) rs1131692230
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala) rs1602231489
NM_001127695.2(CTSA):c.51_54delinsC (p.Leu19del) rs886039898
NM_006516.3(SLC2A1):c.517-1G>C rs869312673
NM_006516.3(SLC2A1):c.938C>T (p.Ser313Phe) rs794727870
NM_006516.3(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006516.4(SLC2A1):c.574_575del (p.Ile192fs) rs878853161
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly) rs1050933017
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu)

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