ClinVar Miner

List of variants in gene combination GATAD1, PEX1 reported as benign for Zellweger spectrum disorders

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Total variants: 16
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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.3371A>G (p.Asn1124Ser) rs147870525 0.00096
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_000466.3(PEX1):c.3526G>T (p.Val1176Leu) rs200059929 0.00024
NM_000466.3(PEX1):c.3439-16A>G rs563019269 0.00016
NM_000466.3(PEX1):c.2927-14_2927-13del rs765202366
NM_000466.3(PEX1):c.2927-19dup
NM_000466.3(PEX1):c.3637-8del rs775743560
NM_000466.3(PEX1):c.3637-8dup rs775743560
NM_000466.3(PEX1):c.3768-4dup rs1459472276

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