ClinVar Miner

List of variants in gene PRKDC reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006904.7(PRKDC):c.7833C>T (p.Ala2611=) rs375277772 0.00007
NM_006904.7(PRKDC):c.3744C>T (p.Phe1248=) rs200729621 0.00004
NM_006904.7(PRKDC):c.5559C>T (p.Ser1853=) rs777811841 0.00003
NM_006904.7(PRKDC):c.11978C>T (p.Ser3993Leu) rs1554623574

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