ClinVar Miner

Variants in gene combination GATAD1, PEX1 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: 8
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053 0.00582
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881 0.00188
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=) rs143220470 0.00124
NM_000466.3(PEX1):c.2926+8T>C rs369877998 0.00093
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028

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