ClinVar Miner

List of variants in gene DMAC2L, L2HGDH studied for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile) rs201806251
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637
NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser) rs749417358
NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser) rs35710558

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