ClinVar Miner

List of variants in gene DMAC2L, L2HGDH studied for 2-hydroxyglutaric aciduria

Included ClinVar conditions (6):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg) rs2275591 0.58246
NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser) rs35710558 0.01014
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637 0.00324
NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile) rs201806251 0.00145
NM_024884.3(L2HGDH):c.8C>T (p.Pro3Leu) rs148241854 0.00040
NM_024884.3(L2HGDH):c.36C>T (p.Cys12=) rs546802749 0.00008
NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser) rs749417358 0.00006
NM_024884.3(L2HGDH):c.11C>G (p.Ala4Gly) rs376354488 0.00003
NM_024884.3(L2HGDH):c.118G>C (p.Gly40Arg) rs1184011271 0.00002
NM_024884.3(L2HGDH):c.69C>G (p.Ser23=) rs757365260 0.00001
NM_024884.3(L2HGDH):c.90G>A (p.Ala30=) rs2031254187 0.00001
NM_024884.3(L2HGDH):c.106C>A (p.Pro36Thr) rs2031253004
NM_024884.3(L2HGDH):c.111G>A (p.Leu37=)
NM_024884.3(L2HGDH):c.115G>A (p.Gly39Arg) rs2139246630
NM_024884.3(L2HGDH):c.118G>A (p.Gly40Ser)
NM_024884.3(L2HGDH):c.121A>G (p.Ser41Gly)
NM_024884.3(L2HGDH):c.122G>A (p.Ser41Asn)
NM_024884.3(L2HGDH):c.140+17C>G
NM_024884.3(L2HGDH):c.140+1G>A
NM_024884.3(L2HGDH):c.140+2_140+8del
NM_024884.3(L2HGDH):c.140+3G>C
NM_024884.3(L2HGDH):c.19T>C (p.Tyr7His)
NM_024884.3(L2HGDH):c.1A>G (p.Met1Val) rs1477101414
NM_024884.3(L2HGDH):c.41G>A (p.Arg14Gln) rs776223095
NM_024884.3(L2HGDH):c.68C>A (p.Ser23Tyr)
NM_024884.3(L2HGDH):c.77C>T (p.Ala26Val)

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