ClinVar Miner

List of variants reported as uncertain significance for 2-hydroxyglutaric aciduria by Baylor Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_024884.3(L2HGDH):c.408+14T>C rs77736285 0.00215
NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln) rs201921601 0.00027
NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr) rs142624021 0.00025
NM_024884.3(L2HGDH):c.1376A>G (p.Gln459Arg) rs375890787 0.00015
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg) rs112424377 0.00014
NM_152783.5(D2HGDH):c.108C>G (p.Cys36Trp) rs1437082537 0.00005
NM_152783.5(D2HGDH):c.1337C>T (p.Ala446Val) rs746956176 0.00002
NM_002168.4(IDH2):c.373+5G>A rs1901004338 0.00001
NM_005984.5(SLC25A1):c.392C>T (p.Ala131Val) rs782380351 0.00001
NM_005984.5(SLC25A1):c.638A>G (p.Asn213Ser) rs1555922433 0.00001
NM_152783.5(D2HGDH):c.463C>T (p.Arg155Trp) rs763345820 0.00001
NM_152783.5(D2HGDH):c.551G>A (p.Arg184Gln) rs927869057 0.00001
NM_002168.4(IDH2):c.877A>C (p.Met293Leu) rs1900881296
NM_005984.5(SLC25A1):c.889T>C (p.Tyr297His) rs2083956740
NM_005984.5(SLC25A1):c.928A>G (p.Thr310Ala) rs1601397432
NM_024884.3(L2HGDH):c.833T>C (p.Ile278Thr) rs763449413
NM_152783.5(D2HGDH):c.350+10_350+12del rs1694331906

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