ClinVar Miner

Variants in gene combination ELP4, PAX6 with conflicting interpretations reported as "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: 17
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_019040.5(ELP4):c.*3994C>A rs79739975 0.00857
NM_019040.5(ELP4):c.*3425C>T rs3026399 0.00813
NM_019040.5(ELP4):c.*2740G>A rs149777109 0.00394
NM_019040.5(ELP4):c.*3242G>A rs187705792 0.00303
NM_019040.5(ELP4):c.*3713A>T rs138881442 0.00236
NM_019040.5(ELP4):c.*4932G>A rs181818313 0.00198
NM_019040.5(ELP4):c.*2040G>C rs183115097 0.00194
NM_019040.5(ELP4):c.*3904G>A rs3026397 0.00189
NM_019040.5(ELP4):c.*4974C>T rs138035131 0.00148
NM_019040.5(ELP4):c.*1302T>C rs146579778 0.00120
NM_019040.5(ELP4):c.*2525C>A rs183433948 0.00096
NM_001368894.2(PAX6):c.*21del (p.Ter437=) rs759391101
NM_001368894.2(PAX6):c.1306C>A (p.Gln436Lys) rs751795008
NM_001368894.2(PAX6):c.1308G>A (p.Gln436=) rs758783285
NM_001368894.2(PAX6):c.1309T>A (p.Ter437Lys) rs750848278
NM_019040.5(ELP4):c.*1811A>C rs185968715

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