ClinVar Miner

List of variants studied for Immunodeficiency 27A by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005535.3(IL12RB1):c.783+10C>T rs79972275 0.00554
NM_005535.3(IL12RB1):c.1719C>T (p.Ala573=) rs17885102 0.00316
NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu) rs121913208 0.00206
NM_005534.4(IFNGR2):c.595T>C (p.Leu199=) rs149173957 0.00043

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