ClinVar Miner

List of variants in gene L2HGDH reported as likely benign for L-2-hydroxyglutaric aciduria

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_024884.3(L2HGDH):c.1064+5C>T rs77236437 0.00130
NM_024884.3(L2HGDH):c.409-4G>T rs767524925 0.00072
NM_024884.3(L2HGDH):c.756T>C (p.Cys252=) rs141562044 0.00060
NM_024884.3(L2HGDH):c.830G>A (p.Arg277Gln) rs147866347 0.00030
NM_024884.3(L2HGDH):c.663T>C (p.Gly221=) rs201951588 0.00017
NM_024884.3(L2HGDH):c.1155T>G (p.Leu385=) rs141715606 0.00010
NM_024884.3(L2HGDH):c.246G>A (p.Glu82=) rs138070052 0.00010
NM_024884.3(L2HGDH):c.1174A>G (p.Ile392Val) rs373172891 0.00009
NM_024884.3(L2HGDH):c.852T>C (p.Asp284=) rs200003497 0.00004
NM_024884.3(L2HGDH):c.720T>C (p.Ile240=) rs111946925 0.00003
NM_024884.3(L2HGDH):c.987A>G (p.Ala329=) rs146196275 0.00003
NM_024884.3(L2HGDH):c.531A>G (p.Pro177=) rs1566533666 0.00002
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=) rs564306903 0.00002
NM_024884.3(L2HGDH):c.1197-20C>T rs762276542 0.00001
NM_024884.3(L2HGDH):c.399G>A (p.Gln133=) rs1198087421 0.00001
NM_024884.3(L2HGDH):c.409-20T>C rs200340479 0.00001
NM_024884.3(L2HGDH):c.600G>A (p.Leu200=) rs748499389 0.00001
NM_024884.3(L2HGDH):c.739-5A>G rs1368025048 0.00001
NM_024884.3(L2HGDH):c.816C>T (p.Cys272=) rs927773441 0.00001
NM_024884.3(L2HGDH):c.907-13G>A rs746609687 0.00001
NM_024884.3(L2HGDH):c.1064+13_1064+16del
NM_024884.3(L2HGDH):c.1065-14T>G
NM_024884.3(L2HGDH):c.1143A>G (p.Thr381=)
NM_024884.3(L2HGDH):c.1196+20A>C
NM_024884.3(L2HGDH):c.1197-17A>T
NM_024884.3(L2HGDH):c.1200C>T (p.Gly400=)
NM_024884.3(L2HGDH):c.1230T>C (p.Asp410=)
NM_024884.3(L2HGDH):c.1383T>C (p.Phe461=) rs2139922124
NM_024884.3(L2HGDH):c.168C>T (p.Gly56=)
NM_024884.3(L2HGDH):c.207G>C (p.Leu69=)
NM_024884.3(L2HGDH):c.216A>G (p.Pro72=) rs2139215566
NM_024884.3(L2HGDH):c.257-9G>C
NM_024884.3(L2HGDH):c.264C>T (p.His88=)
NM_024884.3(L2HGDH):c.378A>G (p.Gln126=)
NM_024884.3(L2HGDH):c.405C>G (p.Gly135=)
NM_024884.3(L2HGDH):c.408+13del
NM_024884.3(L2HGDH):c.408+15T>C
NM_024884.3(L2HGDH):c.408+7C>T
NM_024884.3(L2HGDH):c.453C>A (p.Ala151=) rs2029899900
NM_024884.3(L2HGDH):c.498G>C (p.Leu166=)
NM_024884.3(L2HGDH):c.522G>A (p.Lys174=)
NM_024884.3(L2HGDH):c.537T>C (p.Cys179=)
NM_024884.3(L2HGDH):c.540+19G>A
NM_024884.3(L2HGDH):c.540+20A>G
NM_024884.3(L2HGDH):c.541-12A>C
NM_024884.3(L2HGDH):c.603A>G (p.Ser201=)
NM_024884.3(L2HGDH):c.703+13del rs768868129
NM_024884.3(L2HGDH):c.735A>G (p.Thr245=)
NM_024884.3(L2HGDH):c.738+16C>A
NM_024884.3(L2HGDH):c.739-12A>G
NM_024884.3(L2HGDH):c.739-20_739-19del
NM_024884.3(L2HGDH):c.750T>C (p.Ile250=) rs2139982392
NM_024884.3(L2HGDH):c.807G>A (p.Leu269=)
NM_024884.3(L2HGDH):c.906+18C>T
NM_024884.3(L2HGDH):c.906+7A>G
NM_024884.3(L2HGDH):c.948A>G (p.Thr316=)
NM_024884.3(L2HGDH):c.978G>T (p.Gly326=)

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