ClinVar Miner

List of variants studied for Severe combined immunodeficiency due to DNA-PKcs deficiency by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_006904.7(PRKDC):c.6901C>G (p.Gln2301Glu) rs376211703 0.00048
NM_006904.7(PRKDC):c.3898A>G (p.Ser1300Gly) rs368949953 0.00016
NM_006904.7(PRKDC):c.5572-4G>A rs367584015 0.00015
NM_006904.7(PRKDC):c.5107A>G (p.Thr1703Ala) rs376188635 0.00009
NM_006904.7(PRKDC):c.1713C>T (p.Ser571=) rs373088662 0.00002
NM_006904.7(PRKDC):c.4138G>A (p.Ala1380Thr) rs56209904 0.00002
NM_006904.7(PRKDC):c.11561C>T (p.Ala3854Val) rs779943187 0.00001
NM_006904.7(PRKDC):c.7812G>A (p.Pro2604=) rs763035246 0.00001
NM_006904.7(PRKDC):c.3236C>T (p.Ser1079Leu) rs2551875543

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