ClinVar Miner

List of variants in gene PRKDC reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076 0.00235
NM_006904.7(PRKDC):c.5957G>A (p.Arg1986His) rs199898990 0.00016
NM_006904.7(PRKDC):c.7954G>A (p.Gly2652Arg) rs746861565 0.00006
NM_006904.7(PRKDC):c.8857A>T (p.Thr2953Ser) rs369402631 0.00006
NM_006904.7(PRKDC):c.1862C>T (p.Ser621Leu) rs759890511 0.00004
NM_006904.7(PRKDC):c.5464C>T (p.Arg1822Cys) rs377127342 0.00004
NM_006904.7(PRKDC):c.11930C>T (p.Thr3977Met) rs200248112 0.00001
NM_006904.7(PRKDC):c.3157C>T (p.Pro1053Ser) rs771002751 0.00001
NM_006904.7(PRKDC):c.10322C>T (p.Ala3441Val) rs757868901
NM_006904.7(PRKDC):c.1114-1G>A rs1554645438
NM_006904.7(PRKDC):c.11212A>G (p.Ile3738Val)
NM_006904.7(PRKDC):c.11713G>T (p.Ala3905Ser) rs762000221
NM_006904.7(PRKDC):c.3256T>C (p.Tyr1086His) rs1030128713
NM_006904.7(PRKDC):c.5960G>A (p.Arg1987His) rs551812114
NM_006904.7(PRKDC):c.7114C>T (p.Pro2372Ser) rs748925420

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