ClinVar Miner

List of variants in gene D2HGDH reported as uncertain significance for D-2-hydroxyglutaric aciduria

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.*87C>T rs546752536 0.00378
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235 0.00235
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303 0.00176
NM_152783.5(D2HGDH):c.*717C>G rs555898820 0.00117
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156 0.00073
NM_152783.5(D2HGDH):c.*461C>T rs530527351 0.00070
NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe) rs145839736 0.00052
NM_152783.5(D2HGDH):c.*2G>A rs144699251 0.00046
NM_152783.5(D2HGDH):c.*503C>T rs755235230 0.00045
NM_152783.5(D2HGDH):c.*194G>A rs537045408 0.00044
NM_152783.5(D2HGDH):c.*462G>A rs978543777 0.00030
NM_152783.5(D2HGDH):c.*51C>T rs372240356 0.00029
NM_152783.5(D2HGDH):c.893C>T (p.Thr298Ile) rs141475702 0.00029
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_152783.5(D2HGDH):c.*284C>T rs148945152 0.00020
NM_152783.5(D2HGDH):c.1334C>T (p.Thr445Met) rs200103827 0.00019
NM_152783.5(D2HGDH):c.*537G>A rs369661387 0.00017
NM_152783.5(D2HGDH):c.1199A>G (p.Tyr400Cys) rs138598929 0.00016
NM_152783.5(D2HGDH):c.768C>T (p.Ile256=) rs377034676 0.00016
NM_152783.5(D2HGDH):c.*150C>T rs547925261 0.00014
NM_152783.5(D2HGDH):c.*542C>T rs1035041997 0.00014
NM_152783.5(D2HGDH):c.1262G>A (p.Arg421His) rs139611034 0.00014
NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=) rs376268002 0.00014
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg) rs112424377 0.00014
NM_152783.5(D2HGDH):c.*597C>T rs187157907 0.00013
NM_152783.5(D2HGDH):c.*334C>T rs934875929 0.00012
NM_152783.5(D2HGDH):c.997+6G>A rs749247772 0.00012
NM_152783.5(D2HGDH):c.*714G>A rs976477266 0.00011
NM_152783.5(D2HGDH):c.1328A>G (p.Asn443Ser) rs149519095 0.00011
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017 0.00011
NM_152783.5(D2HGDH):c.*680G>C rs749772854 0.00010
NM_152783.5(D2HGDH):c.1306+15G>A rs759068118 0.00010
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.*405C>T rs1005668285 0.00009
NM_152783.5(D2HGDH):c.567G>A (p.Pro189=) rs140447217 0.00009
NM_152783.5(D2HGDH):c.832G>A (p.Ala278Thr) rs148920052 0.00009
NM_152783.5(D2HGDH):c.*298C>T rs555079079 0.00007
NM_152783.5(D2HGDH):c.1547C>T (p.Thr516Met) rs762019434 0.00007
NM_152783.5(D2HGDH):c.*669G>A rs868370456 0.00006
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.1306+7G>A rs537773004 0.00005
NM_152783.5(D2HGDH):c.1528A>G (p.Ile510Val) rs749622678 0.00005
NM_152783.5(D2HGDH):c.634C>T (p.Arg212Trp) rs765328102 0.00005
NM_152783.5(D2HGDH):c.854-8C>T rs758727451 0.00005
NM_152783.5(D2HGDH):c.*713C>T rs955806203 0.00004
NM_152783.5(D2HGDH):c.1430G>C (p.Gly477Ala) rs565397135 0.00004
NM_152783.5(D2HGDH):c.*709G>A rs891588656 0.00003
NM_152783.5(D2HGDH):c.1083G>A (p.Ala361=) rs183342534 0.00003
NM_152783.5(D2HGDH):c.1141-12C>T rs753825335 0.00003
NM_152783.5(D2HGDH):c.1351C>T (p.Pro451Ser) rs527825722 0.00003
NM_152783.5(D2HGDH):c.1502T>C (p.Leu501Pro) rs747738269 0.00003
NM_152783.5(D2HGDH):c.324G>A (p.Thr108=) rs371102955 0.00003
NM_152783.5(D2HGDH):c.454C>T (p.Arg152Cys) rs201926349 0.00003
NM_152783.5(D2HGDH):c.821C>T (p.Pro274Leu) rs781751387 0.00003
NM_152783.5(D2HGDH):c.*171G>A rs886055849 0.00002
NM_152783.5(D2HGDH):c.*499G>A rs886055851 0.00002
NM_152783.5(D2HGDH):c.1255C>T (p.Arg419Cys) rs769832110 0.00002
NM_152783.5(D2HGDH):c.1257C>T (p.Arg419=) rs368133306 0.00002
NM_152783.5(D2HGDH):c.1337C>T (p.Ala446Val) rs746956176 0.00002
NM_152783.5(D2HGDH):c.1523A>G (p.Lys508Arg) rs770361030 0.00002
NM_152783.5(D2HGDH):c.319C>T (p.Arg107Trp) rs760624454 0.00002
NM_152783.5(D2HGDH):c.746A>G (p.Tyr249Cys) rs761760267 0.00002
NM_152783.5(D2HGDH):c.*256G>T rs1295961695 0.00001
NM_152783.5(D2HGDH):c.*687C>T rs1056471627 0.00001
NM_152783.5(D2HGDH):c.1285G>A (p.Val429Met) rs769624048 0.00001
NM_152783.5(D2HGDH):c.1446G>A (p.Lys482=) rs763276027 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.451G>A (p.Ala151Thr) rs761620958 0.00001
NM_152783.5(D2HGDH):c.463C>T (p.Arg155Trp) rs763345820 0.00001
NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr) rs773735172 0.00001
NM_152783.5(D2HGDH):c.551G>A (p.Arg184Gln) rs927869057 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
NM_152783.5(D2HGDH):c.963C>T (p.Val321=) rs141524359 0.00001
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.*253C>T rs1699309905
NM_152783.5(D2HGDH):c.*321A>G rs765103729
NM_152783.5(D2HGDH):c.*411dup rs113265004
NM_152783.5(D2HGDH):c.*553G>T rs886055852
NM_152783.5(D2HGDH):c.*633T>A rs1699332917
NM_152783.5(D2HGDH):c.1018A>G (p.Ile340Val)
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.1214C>T (p.Ser405Phe) rs1698116237
NM_152783.5(D2HGDH):c.1220C>T (p.Pro407Leu) rs1698117011
NM_152783.5(D2HGDH):c.1252C>G (p.Leu418Val) rs771150863
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.229G>A (p.Gly77Arg)
NM_152783.5(D2HGDH):c.320G>A (p.Arg107Gln)
NM_152783.5(D2HGDH):c.350+10_350+12del rs1694331906
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.540T>C (p.Tyr180=) rs752626142
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.609C>G (p.Asn203Lys)
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.854-7G>A rs1575278743
NM_152783.5(D2HGDH):c.893C>G (p.Thr298Ser)
NM_152783.5(D2HGDH):c.911G>A (p.Gly304Asp)
NM_152783.5(D2HGDH):c.923C>G (p.Ser308Cys) rs886055848
NM_152783.5(D2HGDH):c.964_984dup (p.Ala328_Ser329insGlyArgHisLeuHisLeuAla)
NM_152783.5(D2HGDH):c.989C>T (p.Pro330Leu)
NM_152783.5(D2HGDH):c.998-2A>G rs1559380854

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