ClinVar Miner

List of variants in gene PRKDC reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006904.7(PRKDC):c.9145C>T (p.Leu3049=) rs56053523 0.00669
NM_006904.7(PRKDC):c.11805C>T (p.Gly3935=) rs8178249 0.00590
NM_006904.7(PRKDC):c.1911A>G (p.Lys637=) rs45438803 0.00412
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076 0.00235
NM_006904.7(PRKDC):c.12138C>T (p.Tyr4046=) rs56123237 0.00196
NM_006904.7(PRKDC):c.6951C>T (p.Ala2317=) rs114463099 0.00106
NM_006904.7(PRKDC):c.9933C>T (p.Asn3311=) rs201592874 0.00080
NM_006904.7(PRKDC):c.6342A>G (p.Glu2114=) rs201300612 0.00071
NM_006904.7(PRKDC):c.6348T>C (p.Asp2116=) rs200510022 0.00070
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119 0.00059
NM_006904.7(PRKDC):c.11337C>T (p.Ser3779=) rs55789637 0.00053
NM_006904.7(PRKDC):c.5709G>A (p.Ser1903=) rs200137917 0.00052
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe) rs374403400 0.00051
NM_006904.7(PRKDC):c.11118C>T (p.Asp3706=) rs55660253 0.00032
NM_006904.7(PRKDC):c.8784G>A (p.Lys2928=) rs202100944 0.00029
NM_006904.7(PRKDC):c.1743T>C (p.Leu581=) rs55842323 0.00024
NM_006904.7(PRKDC):c.7787G>A (p.Arg2596His) rs201726098 0.00009
NM_006904.7(PRKDC):c.11514A>G (p.Glu3838=)
NM_006904.7(PRKDC):c.12321G>A (p.Leu4107=)
NM_006904.7(PRKDC):c.243T>C (p.Cys81=)
NM_006904.7(PRKDC):c.4455C>T (p.Ser1485=)
NM_006904.7(PRKDC):c.6441C>G (p.Ala2147=) rs376156239
NM_006904.7(PRKDC):c.7605C>T (p.Thr2535=)
NM_006904.7(PRKDC):c.7962C>T (p.Ser2654=) rs1563758541
NM_006904.7(PRKDC):c.8004C>T (p.Val2668=) rs140123272
NM_006904.7(PRKDC):c.8274G>A (p.Lys2758=) rs148855050

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.