ClinVar Miner

List of variants in gene SERAC1 reported as pathogenic by GeneDx

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025 0.00006
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_032861.4(SERAC1):c.1102C>T (p.Arg368Ter) rs758745099 0.00001
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter) rs199632531 0.00001
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter) rs780664696 0.00001
NM_032861.4(SERAC1):c.1347_1350dup (p.Val451fs) rs780275814
NM_032861.4(SERAC1):c.1628_1629dup (p.Val544fs) rs767780913
NM_032861.4(SERAC1):c.1916G>C (p.Arg639Pro) rs768913919
NM_032861.4(SERAC1):c.227_228dup (p.Val77fs) rs886041750
NM_032861.4(SERAC1):c.493C>T (p.Gln165Ter) rs1057523999

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