ClinVar Miner

List of variants in gene L2HGDH reported as benign by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 6
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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.1100A>G (p.Tyr367Cys) rs115954396 0.00315
NM_024884.3(L2HGDH):c.510G>A (p.Glu170=) rs151305613 0.00106
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=) rs369101323 0.00018
NM_024884.3(L2HGDH):c.1353A>G (p.Gly451=) rs192927318 0.00007
NM_024884.3(L2HGDH):c.409-15dup rs368650202

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