ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_033026.6(PCLO):c.10767C>G (p.Asp3589Glu) rs149879954 0.00221
NM_033026.6(PCLO):c.1297G>A (p.Ala433Thr) rs201344475 0.00180
NM_033026.6(PCLO):c.13840G>A (p.Ala4614Thr) rs117222461 0.00125
NM_033026.6(PCLO):c.7571A>T (p.Gln2524Leu) rs201409874 0.00052
NM_033026.6(PCLO):c.13391C>T (p.Pro4464Leu) rs200789291 0.00012
NM_033026.6(PCLO):c.7868T>G (p.Val2623Gly) rs776949129 0.00007
NM_033026.6(PCLO):c.929C>G (p.Thr310Ser) rs377435737 0.00006
NM_033026.6(PCLO):c.6532C>T (p.Pro2178Ser) rs201432429

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