ClinVar Miner

List of variants in gene IQSEC2 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228 0.02162
NM_001111125.3(IQSEC2):c.1592G>C (p.Arg531Pro) rs149027201 0.00060
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala) rs782357394 0.00031
NM_001111125.3(IQSEC2):c.2052C>T (p.Cys684=) rs782132072 0.00005
NM_001111125.3(IQSEC2):c.3753C>T (p.His1251=) rs782399288

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