ClinVar Miner

List of variants in gene L2HGDH studied for L-2-hydroxyglutaric aciduria

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Total variants: 32
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HGVS dbSNP
NC_000014.9:g.(?_50267733)_(50269350_?)del
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter) rs387907013
NM_024884.3(L2HGDH):c.1015del (p.Arg339fs) rs1555328749
NM_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg) rs1273518496
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396
NM_024884.3(L2HGDH):c.1115del (p.Met372fs) rs786200869
NM_024884.3(L2HGDH):c.1174A>G (p.Ile392Val) rs373172891
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) rs150157112
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=) rs369101323
NM_024884.3(L2HGDH):c.1353A>G (p.Gly451=) rs192927318
NM_024884.3(L2HGDH):c.1372C>A (p.Gln458Lys)
NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp) rs118204021
NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter) rs937345512
NM_024884.3(L2HGDH):c.256+1G>A rs150299874
NM_024884.3(L2HGDH):c.275A>G (p.His92Arg) rs140209047
NM_024884.3(L2HGDH):c.293A>G (p.His98Arg) rs267607206
NM_024884.3(L2HGDH):c.336A>G (p.Leu112=) rs59390116
NM_024884.3(L2HGDH):c.465del (p.Gly156fs) rs797045678
NM_024884.3(L2HGDH):c.530del (p.Pro177fs) rs766538932
NM_024884.3(L2HGDH):c.533A>T (p.Tyr178Phe) rs770542189
NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys) rs887386390
NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp) rs368140834
NM_024884.3(L2HGDH):c.600G>A (p.Leu200=) rs748499389
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=) rs564306903
NM_024884.3(L2HGDH):c.647A>G (p.Asn216Ser) rs574500803
NM_024884.3(L2HGDH):c.663T>C (p.Gly221=) rs201951588
NM_024884.3(L2HGDH):c.756T>C (p.Cys252=) rs141562044
NM_024884.3(L2HGDH):c.794G>A (p.Arg265His)
NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter)
NM_024884.3(L2HGDH):c.845G>A (p.Arg282Gln)
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) rs118204020
NM_024884.3(L2HGDH):c.906+1G>T rs786200870

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