ClinVar Miner

Variants in gene D2HGDH with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
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.1140+8G>A rs369135156 0.00073
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys) rs143460342 0.00071
NM_152783.5(D2HGDH):c.893C>T (p.Thr298Ile) rs141475702 0.00029
NM_152783.5(D2HGDH):c.768C>T (p.Ile256=) rs377034676 0.00016
NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=) rs376268002 0.00014
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017 0.00011
NM_152783.5(D2HGDH):c.1306+15G>A rs759068118 0.00010
NM_152783.5(D2HGDH):c.567G>A (p.Pro189=) rs140447217 0.00009
NM_152783.5(D2HGDH):c.1306+7G>A rs537773004 0.00005
NM_152783.5(D2HGDH):c.854-8C>T rs758727451 0.00005
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.324G>A (p.Thr108=) rs371102955 0.00003
NM_152783.5(D2HGDH):c.1446G>A (p.Lys482=) rs763276027 0.00001
NM_152783.5(D2HGDH):c.963C>T (p.Val321=) rs141524359 0.00001

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