ClinVar Miner

List of variants in gene D2HGDH reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.685-9T>C rs4234097 0.55730
NM_152783.5(D2HGDH):c.*449C>T rs4234096 0.49853
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639 0.25945
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273 0.17904
NM_152783.5(D2HGDH):c.*801A>G rs35671465 0.16469
NM_152783.5(D2HGDH):c.*778C>T rs6746151 0.15209
NM_152783.5(D2HGDH):c.*254G>A rs6713318 0.13504
NM_152783.5(D2HGDH):c.*93T>C rs11552660 0.10660
NM_152783.5(D2HGDH):c.*688G>A rs6716743 0.08600
NM_152783.5(D2HGDH):c.*661C>T rs113372064 0.06400
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=) rs141343442 0.03691
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322 0.02768
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507 0.01790
NM_152783.5(D2HGDH):c.1377C>A (p.Pro459=) rs143940595 0.01280
NM_152783.5(D2HGDH):c.*427G>A rs142873084 0.01193
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130 0.00949
NM_152783.5(D2HGDH):c.*26C>T rs141211991 0.00666
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_152783.5(D2HGDH):c.990G>A (p.Pro330=) rs142073267 0.00425
NM_152783.5(D2HGDH):c.*27C>T rs150707660 0.00382
NM_152783.5(D2HGDH):c.*87C>T rs546752536 0.00378
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645 0.00323
NM_152783.5(D2HGDH):c.1307-15C>T rs111836685 0.00311
NM_152783.5(D2HGDH):c.*40C>T rs139456115 0.00309
NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=) rs140096524 0.00297
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235 0.00235
NM_152783.5(D2HGDH):c.*266G>A rs145823152 0.00209
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303 0.00176
NM_152783.5(D2HGDH):c.*410G>A rs568821876 0.00159
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.1183C>T (p.Arg395Trp) rs149628174 0.00038
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.*284C>T rs148945152 0.00020
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=) rs201294258 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.*474C>T rs570372209 0.00013
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.*714G>A rs976477266 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.*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.1256G>A (p.Arg419His) rs199908032 0.00006
NM_152783.5(D2HGDH):c.1306+7G>A rs537773004 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.*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.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.*171G>A rs886055849 0.00002
NM_152783.5(D2HGDH):c.*499G>A rs886055851 0.00002
NM_152783.5(D2HGDH):c.1257C>T (p.Arg419=) rs368133306 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.*256G>T rs1295961695 0.00001
NM_152783.5(D2HGDH):c.*687C>T rs1056471627 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.551G>A (p.Arg184Gln) rs927869057 0.00001
NM_152783.5(D2HGDH):c.697G>A (p.Gly233Ser) rs374535734 0.00001
NM_152783.5(D2HGDH):c.963C>T (p.Val321=) rs141524359 0.00001
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.*433G>T rs146545933
NM_152783.5(D2HGDH):c.*553G>T rs886055852
NM_152783.5(D2HGDH):c.*633T>A rs1699332917
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.1272G>A (p.Pro424=) rs375565047
NM_152783.5(D2HGDH):c.540T>C (p.Tyr180=) rs752626142
NM_152783.5(D2HGDH):c.854-7G>A rs1575278743
NM_152783.5(D2HGDH):c.923C>G (p.Ser308Cys) rs886055848
NM_152783.5(D2HGDH):c.998-2A>G rs1559380854

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