ClinVar Miner

List of variants in gene PRKDC studied for not specified

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_006904.7(PRKDC):c.1623+6A>G rs1231202 0.96352
NM_006904.7(PRKDC):c.12182+39G>A rs8178258 0.23073
NM_006904.7(PRKDC):c.5572-51G>A rs6993483 0.22999
NM_006904.7(PRKDC):c.10297+89G>C rs7828380 0.14596
NM_006904.7(PRKDC):c.10301T>C (p.Ile3434Thr) rs7830743 0.13382
NM_006904.7(PRKDC):c.8578-18G>T rs4873728 0.12075
NM_006904.7(PRKDC):c.967-71G>A rs8178016 0.12068
NM_006904.7(PRKDC):c.2934+5G>C rs8178060 0.05686
NM_006904.7(PRKDC):c.9922+13C>T rs8178217 0.05523
NM_006904.7(PRKDC):c.999G>A (p.Met333Ile) rs8178017 0.03099
NM_006904.7(PRKDC):c.1814C>G (p.Thr605Ser) rs8178033 0.02513
NM_006904.7(PRKDC):c.3759G>A (p.Thr1253=) rs8178087 0.02475
NM_006904.7(PRKDC):c.6346-105A>G rs8178148 0.01827
NM_006904.7(PRKDC):c.3212A>G (p.Asn1071Ser) rs8178070 0.01542
NM_006904.7(PRKDC):c.10211G>A (p.Gly3404Glu) rs8178225 0.01254
NM_006904.7(PRKDC):c.5088T>G (p.Leu1696=) rs6992074 0.01219
NM_006904.7(PRKDC):c.2083C>T (p.Pro695Ser) rs8178046 0.01166
NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser) rs8178228 0.01084
NM_006904.7(PRKDC):c.9601C>T (p.Pro3201Ser) rs8178216 0.00825
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.3042+18C>A rs56169650 0.00521
NM_006904.7(PRKDC):c.6480C>T (p.Tyr2160=) rs55991828 0.00408
NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp) rs8178208 0.00320
NM_006904.7(PRKDC):c.9557+8G>A rs8178209 0.00313
NM_006904.7(PRKDC):c.10759-11T>C rs373043773 0.00266
NM_006904.7(PRKDC):c.4809G>T (p.Gln1603His) rs8178106 0.00109
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143 0.00104
NM_006904.7(PRKDC):c.9933C>T (p.Asn3311=) rs201592874 0.00080
NM_006904.7(PRKDC):c.11698C>G (p.Leu3900Val) rs201214138 0.00057
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe) rs374403400 0.00051
NM_006904.7(PRKDC):c.3462G>A (p.Pro1154=) rs368215109 0.00020
NM_006904.7(PRKDC):c.11591G>A (p.Arg3864His) rs373169292 0.00013
NM_006904.7(PRKDC):c.4137C>T (p.Pro1379=) rs189680139 0.00011
NM_006904.7(PRKDC):c.593G>A (p.Arg198His) rs368974848 0.00007
NM_006904.7(PRKDC):c.10774G>T (p.Val3592Leu) rs1490966994 0.00006
NM_006904.7(PRKDC):c.12343A>G (p.Asn4115Asp) rs529354763 0.00005
NM_006904.7(PRKDC):c.594C>T (p.Arg198=) rs550250358 0.00005
NM_006904.7(PRKDC):c.11967G>A (p.Arg3989=) rs953043854 0.00001
NM_006904.7(PRKDC):c.1826C>T (p.Ala609Val) rs761291525 0.00001
NM_006904.7(PRKDC):c.4014G>A (p.Val1338=) rs976690996 0.00001
NC_000008.10:g.(48736558_48739216)_(48872744_?)dup
NM_006904.7(PRKDC):c.11050T>C (p.Ser3684Pro) rs2154497615
NM_006904.7(PRKDC):c.2140-13_2140-11del rs370706897
NM_006904.7(PRKDC):c.325-19dup rs567466258
NM_006904.7(PRKDC):c.3848-14A>T rs749113047
NM_006904.7(PRKDC):c.5181G>C (p.Arg1727Ser) rs1363640503
NM_006904.7(PRKDC):c.5750+2_5750+5del rs2154500742
NM_006904.7(PRKDC):c.9556C>T (p.Arg3186Ter)
NM_006904.7(PRKDC):c.9557+2T>A
NM_006904.7(PRKDC):c.9749A>G (p.Asn3250Ser)
NM_006904.7(PRKDC):c.9923-17dup rs573568510

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