ClinVar Miner

List of variants in gene PRKDC reported by Baylor Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006904.7(PRKDC):c.422C>G (p.Ser141Cys) rs201231274 0.00239
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076 0.00235
NM_006904.7(PRKDC):c.11990T>C (p.Leu3997Pro) rs201883689 0.00011
NM_006904.7(PRKDC):c.1054G>A (p.Val352Met) rs772734060 0.00005
NM_006904.7(PRKDC):c.4861A>G (p.Thr1621Ala) rs370593598 0.00003
NM_006904.7(PRKDC):c.10778G>A (p.Arg3593Lys) rs531330017 0.00001
NM_006904.7(PRKDC):c.3364+4C>T rs779701820 0.00001
NM_006904.7(PRKDC):c.6284C>T (p.Ala2095Val) rs8178147 0.00001
NM_006904.7(PRKDC):c.7080T>C (p.Phe2360=) rs1463023336 0.00001
NM_006904.7(PRKDC):c.7371C>T (p.Pro2457=) rs1037182844 0.00001
NM_006904.7(PRKDC):c.1187T>C (p.Phe396Ser) rs2090353585
NM_006904.7(PRKDC):c.4773A>G (p.Lys1591=) rs2089318466
NM_006904.7(PRKDC):c.655G>C (p.Val219Leu) rs1247432451

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