ClinVar Miner

List of variants reported as uncertain significance for D-2-hydroxyglutaric aciduria 1 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe) rs145839736 0.00052
NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr) rs142624021 0.00025
NM_152783.5(D2HGDH):c.1334C>T (p.Thr445Met) rs200103827 0.00019
NM_152783.5(D2HGDH):c.1199A>G (p.Tyr400Cys) rs138598929 0.00016
NM_152783.5(D2HGDH):c.1262G>A (p.Arg421His) rs139611034 0.00014
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg) rs112424377 0.00014
NM_152783.5(D2HGDH):c.997+6G>A rs749247772 0.00012
NM_152783.5(D2HGDH):c.1328A>G (p.Asn443Ser) rs149519095 0.00011
NM_152783.5(D2HGDH):c.1453G>A (p.Val485Ile) rs375162898 0.00010
NM_152783.5(D2HGDH):c.424G>A (p.Val142Ile) rs143231454 0.00010
NM_152783.5(D2HGDH):c.832G>A (p.Ala278Thr) rs148920052 0.00009
NM_152783.5(D2HGDH):c.1547C>T (p.Thr516Met) rs762019434 0.00007
NM_152783.5(D2HGDH):c.1243G>A (p.Val415Met) rs371794611 0.00006
NM_152783.5(D2HGDH):c.1256G>A (p.Arg419His) rs199908032 0.00006
NM_152783.5(D2HGDH):c.108C>G (p.Cys36Trp) rs1437082537 0.00005
NM_152783.5(D2HGDH):c.1528A>G (p.Ile510Val) rs749622678 0.00005
NM_152783.5(D2HGDH):c.1430G>C (p.Gly477Ala) rs565397135 0.00004
NM_152783.5(D2HGDH):c.1351C>T (p.Pro451Ser) rs527825722 0.00003
NM_152783.5(D2HGDH):c.821C>T (p.Pro274Leu) rs781751387 0.00003
NM_152783.5(D2HGDH):c.1255C>T (p.Arg419Cys) rs769832110 0.00002
NM_152783.5(D2HGDH):c.1523A>G (p.Lys508Arg) rs770361030 0.00002
NM_152783.5(D2HGDH):c.281G>C (p.Arg94Pro) rs797045509 0.00002
NM_152783.5(D2HGDH):c.746A>G (p.Tyr249Cys) rs761760267 0.00002
NM_152783.5(D2HGDH):c.107G>T (p.Cys36Phe) rs762478969 0.00001
NM_152783.5(D2HGDH):c.1285G>A (p.Val429Met) rs769624048 0.00001
NM_152783.5(D2HGDH):c.1505A>G (p.Lys502Arg) rs751788334 0.00001
NM_152783.5(D2HGDH):c.1535A>G (p.Asn512Ser) rs797045508 0.00001
NM_152783.5(D2HGDH):c.188C>G (p.Ser63Cys) rs752903016 0.00001
NM_152783.5(D2HGDH):c.263C>T (p.Pro88Leu) rs750320267 0.00001
NM_152783.5(D2HGDH):c.290G>A (p.Arg97Gln) rs1692514824 0.00001
NM_152783.5(D2HGDH):c.29C>T (p.Pro10Leu) rs1437303780 0.00001
NM_152783.5(D2HGDH):c.451G>A (p.Ala151Thr) rs761620958 0.00001
NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr) rs773735172 0.00001
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517 0.00001
NM_152783.5(D2HGDH):c.601G>A (p.Gly201Arg) rs772738615 0.00001
NM_152783.5(D2HGDH):c.684+12C>T rs1695154641 0.00001
NM_152783.5(D2HGDH):c.697G>A (p.Gly233Ser) rs374535734 0.00001
NM_152783.5(D2HGDH):c.740C>T (p.Thr247Met) rs768774887 0.00001
NM_152783.5(D2HGDH):c.862G>C (p.Gly288Arg) rs757451444 0.00001
NC_000002.11:g.(?_238233417)_(242800990_?)dup
NC_000002.11:g.(?_242680425)_(242684312_?)del
NC_000002.11:g.(?_242707105)_(242707384_?)del
NC_000002.11:g.(?_242707105)_(242707384_?)dup
NC_000002.12:g.(?_241735205)_(241767989_?)dup
NM_152783.5(D2HGDH):c.1018A>G (p.Ile340Val)
NM_152783.5(D2HGDH):c.103_104delinsAA (p.Gly35Asn) rs2124995392
NM_152783.5(D2HGDH):c.1054G>C (p.Glu352Gln) rs1697158886
NM_152783.5(D2HGDH):c.1064G>A (p.Gly355Asp) rs1697160410
NM_152783.5(D2HGDH):c.1114A>G (p.Met372Val)
NM_152783.5(D2HGDH):c.1123G>T (p.Asp375Tyr) rs267606759
NM_152783.5(D2HGDH):c.1127A>G (p.Gln376Arg) rs1575286670
NM_152783.5(D2HGDH):c.1160A>T (p.Glu387Val)
NM_152783.5(D2HGDH):c.1195G>A (p.Val399Met)
NM_152783.5(D2HGDH):c.11G>T (p.Arg4Leu)
NM_152783.5(D2HGDH):c.1214C>T (p.Ser405Phe) rs1698116237
NM_152783.5(D2HGDH):c.1271C>T (p.Pro424Leu)
NM_152783.5(D2HGDH):c.1307G>T (p.Gly436Val)
NM_152783.5(D2HGDH):c.1324C>T (p.Leu442Phe)
NM_152783.5(D2HGDH):c.1370T>C (p.Leu457Pro) rs1575352566
NM_152783.5(D2HGDH):c.1394C>T (p.Thr465Met)
NM_152783.5(D2HGDH):c.1495C>G (p.Gln499Glu)
NM_152783.5(D2HGDH):c.1525G>T (p.Gly509Cys)
NM_152783.5(D2HGDH):c.1531del (p.Leu511fs)
NM_152783.5(D2HGDH):c.164G>C (p.Arg55Pro)
NM_152783.5(D2HGDH):c.229G>A (p.Gly77Arg)
NM_152783.5(D2HGDH):c.257A>G (p.Gln86Arg)
NM_152783.5(D2HGDH):c.273C>G (p.Asp91Glu)
NM_152783.5(D2HGDH):c.281G>T (p.Arg94Leu)
NM_152783.5(D2HGDH):c.289C>G (p.Arg97Gly)
NM_152783.5(D2HGDH):c.320G>A (p.Arg107Gln)
NM_152783.5(D2HGDH):c.418G>A (p.Val140Ile)
NM_152783.5(D2HGDH):c.455G>T (p.Arg152Leu)
NM_152783.5(D2HGDH):c.472A>G (p.Ser158Gly)
NM_152783.5(D2HGDH):c.509C>T (p.Ala170Val)
NM_152783.5(D2HGDH):c.549A>T (p.Glu183Asp) rs758354618
NM_152783.5(D2HGDH):c.574T>G (p.Leu192Val) rs2125080715
NM_152783.5(D2HGDH):c.658C>T (p.His220Tyr)
NM_152783.5(D2HGDH):c.684+9G>C
NM_152783.5(D2HGDH):c.685G>A (p.Val229Met)
NM_152783.5(D2HGDH):c.79C>T (p.Pro27Ser)
NM_152783.5(D2HGDH):c.800C>T (p.Thr267Met)
NM_152783.5(D2HGDH):c.841G>C (p.Val281Leu)
NM_152783.5(D2HGDH):c.893C>G (p.Thr298Ser)
NM_152783.5(D2HGDH):c.911G>A (p.Gly304Asp)
NM_152783.5(D2HGDH):c.964_984dup (p.Ala328_Ser329insGlyArgHisLeuHisLeuAla)
NM_152783.5(D2HGDH):c.989C>T (p.Pro330Leu)

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