ClinVar Miner

List of variants in gene LOC121740717, PRKDC studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_006904.7(PRKDC):c.8695C>T (p.Arg2899Cys) rs4278157 0.03559
NM_006904.7(PRKDC):c.8661C>T (p.Pro2887=) rs78163867 0.00528
NM_006904.7(PRKDC):c.8692C>T (p.Leu2898Phe) rs746024122 0.00010
NM_006904.7(PRKDC):c.8696G>A (p.Arg2899His) rs752729212 0.00006
NM_006904.7(PRKDC):c.8744G>A (p.Arg2915His) rs370540517 0.00006
NM_006904.7(PRKDC):c.8599G>A (p.Ala2867Thr) rs569886407 0.00005
NM_006904.7(PRKDC):c.8679A>G (p.Leu2893=) rs948954480 0.00002
NM_006904.7(PRKDC):c.8579A>G (p.Asp2860Gly) rs899644486 0.00001
NM_006904.7(PRKDC):c.8613C>T (p.Leu2871=) rs750522094 0.00001
NM_006904.7(PRKDC):c.8614G>C (p.Asp2872His) rs1436069671 0.00001
NM_006904.7(PRKDC):c.8682G>A (p.Glu2894=) rs371448868 0.00001
NM_006904.7(PRKDC):c.8732G>A (p.Arg2911His) rs1439704999 0.00001
NM_006904.7(PRKDC):c.8743C>T (p.Arg2915Cys) rs373627081 0.00001
NM_006904.7(PRKDC):c.8620G>C (p.Ala2874Pro) rs2154499228
NM_006904.7(PRKDC):c.8622G>A (p.Ala2874=)
NM_006904.7(PRKDC):c.8625T>C (p.Ala2875=)
NM_006904.7(PRKDC):c.8631C>T (p.Ser2877=)
NM_006904.7(PRKDC):c.8632G>A (p.Ala2878Thr)
NM_006904.7(PRKDC):c.8636G>A (p.Gly2879Asp)
NM_006904.7(PRKDC):c.8639G>A (p.Cys2880Tyr)
NM_006904.7(PRKDC):c.8644G>A (p.Ala2882Thr) rs2154499225
NM_006904.7(PRKDC):c.8646C>T (p.Ala2882=)
NM_006904.7(PRKDC):c.8658G>A (p.Gln2886=)
NM_006904.7(PRKDC):c.8661C>A (p.Pro2887=)
NM_006904.7(PRKDC):c.8662G>A (p.Val2888Met) rs185741285
NM_006904.7(PRKDC):c.8662G>C (p.Val2888Leu) rs185741285
NM_006904.7(PRKDC):c.8662G>T (p.Val2888Leu) rs185741285
NM_006904.7(PRKDC):c.8664G>A (p.Val2888=)
NM_006904.7(PRKDC):c.8671C>G (p.Arg2891Gly)
NM_006904.7(PRKDC):c.8671C>T (p.Arg2891Cys) rs565638844
NM_006904.7(PRKDC):c.8672G>A (p.Arg2891His)
NM_006904.7(PRKDC):c.8685G>A (p.Glu2895=) rs547408689
NM_006904.7(PRKDC):c.8725C>A (p.Arg2909=)
NM_006904.7(PRKDC):c.8744G>C (p.Arg2915Pro)
NM_006904.7(PRKDC):c.8745C>T (p.Arg2915=)
NM_006904.7(PRKDC):c.8767T>C (p.Trp2923Arg) rs1589724169
NM_006904.7(PRKDC):c.8770G>A (p.Val2924Met) rs2154499220
NM_006904.7(PRKDC):c.8783+15dup
NM_006904.7(PRKDC):c.8783+17del

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