ClinVar Miner

List of variants in gene combination GATAD1, PEX1 reported as likely benign by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=) rs143220470 0.00124
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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