ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys) rs147499593 0.00144
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00072
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly) rs1050933017 0.00001
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu) rs1302959508 0.00001
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser) rs777571608
NM_000207.2(INS):c.-187_-164del rs1135401727
NM_000284.4(PDHA1):c.630G>T (p.Met210Ile) rs2147180753
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala) rs1602231489
NM_006516.4(SLC2A1):c.517-1G>C rs869312673
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr) rs1229650809

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