ClinVar Miner

List of variants in gene combination GATAD1, PEX1 reported as uncertain significance for Heimler syndrome 1

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) rs1009877821 0.00001
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro) rs773206107
NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile) rs1164302223
NM_000466.3(PEX1):c.3572A>C (p.Glu1191Ala) rs2116043736

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