ClinVar Miner

List of variants in gene PRKDC reported as likely benign for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP
NM_006904.6(PRKDC):c.11754C>T (p.Leu3918=) rs774251901
NM_006904.6(PRKDC):c.11814C>T (p.Ile3938=) rs750761283
NM_006904.6(PRKDC):c.12216T>A (p.Pro4072=) rs570143368
NM_006904.6(PRKDC):c.129C>T (p.Val43=) rs373856605
NM_006904.6(PRKDC):c.1389G>A (p.Lys463=) rs772883495
NM_006904.6(PRKDC):c.1818A>G (p.Ser606=) rs368804788
NM_006904.6(PRKDC):c.2220C>T (p.Ile740=) rs191477681
NM_006904.6(PRKDC):c.3101G>A (p.Arg1034Gln) rs200669578
NM_006904.6(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119
NM_006904.6(PRKDC):c.422C>G (p.Ser141Cys) rs201231274
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.4594C>T (p.Leu1532Phe) rs56387546
NM_006904.6(PRKDC):c.4936C>T (p.Leu1646=) rs1554638426
NM_006904.6(PRKDC):c.4962+8A>G rs767290425
NM_006904.6(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076
NM_006904.6(PRKDC):c.5253A>G (p.Glu1751=) rs8178120
NM_006904.6(PRKDC):c.5572-4G>A rs367584015
NM_006904.6(PRKDC):c.5750+7T>C rs1231868709
NM_006904.6(PRKDC):c.5760C>T (p.Tyr1920=) rs188014107
NM_006904.6(PRKDC):c.6342A>G (p.Glu2114=) rs201300612
NM_006904.6(PRKDC):c.6348T>C (p.Asp2116=) rs200510022
NM_006904.6(PRKDC):c.6466-9C>T rs752823972
NM_006904.6(PRKDC):c.7405T>C (p.Cys2469Arg) rs147514951
NM_006904.6(PRKDC):c.7647G>A (p.Lys2549=) rs4425755
NM_006904.6(PRKDC):c.7761+10T>C rs1481895843
NM_006904.6(PRKDC):c.7833C>T (p.Ala2611=) rs375277772
NM_006904.6(PRKDC):c.8004C>T (p.Val2668=) rs140123272
NM_006904.6(PRKDC):c.8229T>C (p.Tyr2743=) rs562024708
NM_006904.6(PRKDC):c.871G>A (p.Val291Met) rs372117480
NM_006904.6(PRKDC):c.9557+4A>C rs140578467
NM_006904.6(PRKDC):c.9693C>A (p.Ile3231=) rs759916434
NM_006904.7(PRKDC):c.10014G>A (p.Ala3338=) rs56013236
NM_006904.7(PRKDC):c.10362A>G (p.Leu3454=) rs376203472
NM_006904.7(PRKDC):c.10786C>T (p.Leu3596=) rs1589696373
NM_006904.7(PRKDC):c.11106C>T (p.Pro3702=) rs8178236
NM_006904.7(PRKDC):c.11118C>T (p.Asp3706=) rs55660253
NM_006904.7(PRKDC):c.1116G>A (p.Pro372=) rs369975253
NM_006904.7(PRKDC):c.1236C>T (p.Ser412=) rs371084198
NM_006904.7(PRKDC):c.12375G>A (p.Glu4125=) rs764708924
NM_006904.7(PRKDC):c.1368G>T (p.Val456=) rs781253650
NM_006904.7(PRKDC):c.1581C>T (p.Tyr527=) rs551598588
NM_006904.7(PRKDC):c.1743T>C (p.Leu581=) rs55842323
NM_006904.7(PRKDC):c.1809C>T (p.Ile603=) rs182027303
NM_006904.7(PRKDC):c.1968A>G (p.Gln656=) rs375910031
NM_006904.7(PRKDC):c.231+9A>G rs186234306
NM_006904.7(PRKDC):c.3315G>A (p.Val1105=) rs56047668
NM_006904.7(PRKDC):c.3898A>G (p.Ser1300Gly) rs368949953
NM_006904.7(PRKDC):c.3931A>G (p.Lys1311Glu) rs764358542
NM_006904.7(PRKDC):c.4742A>C (p.Glu1581Ala) rs555783723
NM_006904.7(PRKDC):c.5079C>G (p.Val1693=) rs201654601
NM_006904.7(PRKDC):c.508+9C>T rs369634271
NM_006904.7(PRKDC):c.5694A>G (p.Gln1898=) rs201140159
NM_006904.7(PRKDC):c.5709G>A (p.Ser1903=) rs200137917
NM_006904.7(PRKDC):c.5837A>G (p.Asn1946Ser) rs55835956
NM_006904.7(PRKDC):c.6072T>C (p.Tyr2024=) rs544553927
NM_006904.7(PRKDC):c.6303C>G (p.Val2101=) rs769866046
NM_006904.7(PRKDC):c.6327C>A (p.Gly2109=) rs375377444
NM_006904.7(PRKDC):c.6414A>T (p.Val2138=) rs946805909
NM_006904.7(PRKDC):c.6852C>T (p.Asp2284=) rs200558896
NM_006904.7(PRKDC):c.712A>G (p.Met238Val) rs546088914
NM_006904.7(PRKDC):c.7935A>G (p.Thr2645=) rs767431572
NM_006904.7(PRKDC):c.8178A>G (p.Leu2726=) rs369309081
NM_006904.7(PRKDC):c.8266-10G>A rs187781588
NM_006904.7(PRKDC):c.8274G>A (p.Lys2758=) rs148855050

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