List of variants in gene combination DMAC2L, L2HGDH reported as uncertain significance for L-2-hydroxyglutaric aciduria

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser)	rs749417358	0.00006
NM_024884.3(L2HGDH):c.11C>G (p.Ala4Gly)	rs376354488	0.00003
NM_024884.3(L2HGDH):c.118G>C (p.Gly40Arg)	rs1184011271	0.00002
NM_024884.3(L2HGDH):c.106C>A (p.Pro36Thr)	rs2031253004
NM_024884.3(L2HGDH):c.115G>A (p.Gly39Arg)	rs2139246630
NM_024884.3(L2HGDH):c.118G>A (p.Gly40Ser)
NM_024884.3(L2HGDH):c.121A>G (p.Ser41Gly)
NM_024884.3(L2HGDH):c.122G>A (p.Ser41Asn)
NM_024884.3(L2HGDH):c.140+1G>A
NM_024884.3(L2HGDH):c.140+3G>C
NM_024884.3(L2HGDH):c.19T>C (p.Tyr7His)
NM_024884.3(L2HGDH):c.41G>A (p.Arg14Gln)	rs776223095
NM_024884.3(L2HGDH):c.68C>A (p.Ser23Tyr)
NM_024884.3(L2HGDH):c.77C>T (p.Ala26Val)

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