ClinVar Miner

Variants in gene PDHX with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_003477.3(PDHX):c.474G>A (p.Glu158=) rs148723565 0.00221
NM_003477.3(PDHX):c.642-19A>G rs138324257 0.00145
NM_003477.3(PDHX):c.618C>G (p.Gly206=) rs143997835 0.00128
NM_003477.3(PDHX):c.579A>G (p.Glu193=) rs61752926 0.00082
NM_003477.3(PDHX):c.1503C>T (p.Ala501=) rs151049569 0.00078
NM_003477.3(PDHX):c.161-6T>C rs200438675 0.00056
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716 0.00043
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile) rs146876119 0.00039
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln) rs146445744 0.00034
NM_003477.3(PDHX):c.161-10dup rs771708416

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