ClinVar Miner

List of variants in gene PRKDC reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 4
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HGVS dbSNP
NM_006904.6(PRKDC):c.11978C>T (p.Ser3993Leu) rs1554623574
NM_006904.6(PRKDC):c.3744C>T (p.Phe1248=) rs200729621
NM_006904.6(PRKDC):c.5559C>T (p.Ser1853=) rs777811841
NM_006904.6(PRKDC):c.7833C>T (p.Ala2611=) rs375277772

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