ClinVar Miner

List of variants in gene L2HGDH reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=) rs2297995 0.57826
NM_024884.3(L2HGDH):c.703+12T>C rs12433038 0.50530
NM_024884.3(L2HGDH):c.1196+34C>T rs12432673 0.37158
NM_024884.3(L2HGDH):c.840A>G (p.Pro280=) rs72683923 0.01007
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396 0.00315
NM_024884.3(L2HGDH):c.633C>T (p.Gly211=) rs752538208 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

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