ClinVar Miner

List of variants in gene PRKDC reported by GeneDx

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Gene type:
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Total variants: 51
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HGVS dbSNP
NM_006904.6(PRKDC):c.-29G>A rs1057522893
NM_006904.6(PRKDC):c.10211G>A (p.Gly3404Glu) rs8178225
NM_006904.6(PRKDC):c.10301T>C (p.Ile3434Thr) rs7830743
NM_006904.6(PRKDC):c.10376A>G (p.Asn3459Ser) rs8178228
NM_006904.6(PRKDC):c.10626C>T (p.Phe3542=) rs8178231
NM_006904.6(PRKDC):c.10759-11T>C rs373043773
NM_006904.6(PRKDC):c.10774G>T (p.Val3592Leu) rs1490966994
NM_006904.6(PRKDC):c.1114-1G>A rs1554645438
NM_006904.6(PRKDC):c.11713G>T (p.Ala3905Ser) rs762000221
NM_006904.6(PRKDC):c.11805C>T (p.Gly3935=) rs8178249
NM_006904.6(PRKDC):c.11967G>A (p.Arg3989=) rs953043854
NM_006904.6(PRKDC):c.1623+6A>G rs1231202
NM_006904.6(PRKDC):c.16G>T (p.Ala6Ser) rs8177999
NM_006904.6(PRKDC):c.1814C>G (p.Thr605Ser) rs8178033
NM_006904.6(PRKDC):c.1911A>G (p.Lys637=) rs45438803
NM_006904.6(PRKDC):c.2083C>T (p.Pro695Ser) rs8178046
NM_006904.6(PRKDC):c.2934+5G>C rs8178060
NM_006904.6(PRKDC):c.3042+18C>A rs56169650
NM_006904.6(PRKDC):c.3212A>G (p.Asn1071Ser) rs8178070
NM_006904.6(PRKDC):c.3256T>C (p.Tyr1086His) rs1030128713
NM_006904.6(PRKDC):c.3462G>A (p.Pro1154=) rs368215109
NM_006904.6(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119
NM_006904.6(PRKDC):c.3759G>A (p.Thr1253=) rs8178087
NM_006904.6(PRKDC):c.3848-14A>T rs749113047
NM_006904.6(PRKDC):c.4014G>A (p.Val1338=) rs976690996
NM_006904.6(PRKDC):c.4137C>T (p.Pro1379=) rs189680139
NM_006904.6(PRKDC):c.42G>A (p.Arg14=) rs564283387
NM_006904.6(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143
NM_006904.6(PRKDC):c.4809G>T (p.Gln1603His) rs8178106
NM_006904.6(PRKDC):c.4963-9T>A rs575172711
NM_006904.6(PRKDC):c.5088T>G (p.Leu1696=) rs6992074
NM_006904.6(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076
NM_006904.6(PRKDC):c.5571+5C>T rs780022870
NM_006904.6(PRKDC):c.594C>T (p.Arg198=) rs550250358
NM_006904.6(PRKDC):c.5960G>A (p.Arg1987His) rs551812114
NM_006904.6(PRKDC):c.6480C>T (p.Tyr2160=) rs55991828
NM_006904.6(PRKDC):c.7114C>T (p.Pro2372Ser) rs748925420
NM_006904.6(PRKDC):c.8578-18G>T rs4873728
NM_006904.6(PRKDC):c.8661C>T (p.Pro2887=) rs78163867
NM_006904.6(PRKDC):c.8695C>T (p.Arg2899Cys) rs4278157
NM_006904.6(PRKDC):c.8819G>A (p.Arg2940His) rs372587440
NM_006904.6(PRKDC):c.9145C>T (p.Leu3049=) rs56053523
NM_006904.6(PRKDC):c.9217C>T (p.Leu3073Phe) rs55644332
NM_006904.6(PRKDC):c.9446G>A (p.Gly3149Asp) rs8178208
NM_006904.6(PRKDC):c.9557+8G>A rs8178209
NM_006904.6(PRKDC):c.9601C>T (p.Pro3201Ser) rs8178216
NM_006904.6(PRKDC):c.9922+13C>T rs8178217
NM_006904.6(PRKDC):c.9933C>T (p.Asn3311=) rs201592874
NM_006904.6(PRKDC):c.999G>A (p.Met333Ile) rs8178017
NM_006904.7(PRKDC):c.2140-13_2140-11del rs370706897
NM_006904.7(PRKDC):c.9923-17dup rs573568510

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