ClinVar Miner

List of variants in gene PRKDC studied for not provided

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Gene type:
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Total variants: 79
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HGVS dbSNP
GRCh37/hg19 8q11.21(chr8:48730498-48829786)x1
NM_001081640.2(PRKDC):c.2667G>C (p.Glu889Asp) rs200126714
NM_006904.6(PRKDC):c.10376A>G (p.Asn3459Ser) rs8178228
NM_006904.6(PRKDC):c.11029C>T (p.Pro3677Ser) rs55924155
NM_006904.6(PRKDC):c.1114-1G>A rs1554645438
NM_006904.6(PRKDC):c.11713G>T (p.Ala3905Ser) rs762000221
NM_006904.6(PRKDC):c.11978C>T (p.Ser3993Leu) rs1554623574
NM_006904.6(PRKDC):c.1896G>A (p.Glu632=) rs774814292
NM_006904.6(PRKDC):c.1911A>G (p.Lys637=) rs45438803
NM_006904.6(PRKDC):c.1971T>C (p.Ser657=) rs766026632
NM_006904.6(PRKDC):c.2040A>G (p.Ile680Met) rs8178040
NM_006904.6(PRKDC):c.2955G>C (p.Glu985Asp) rs202016860
NM_006904.6(PRKDC):c.3256T>C (p.Tyr1086His) rs1030128713
NM_006904.6(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119
NM_006904.6(PRKDC):c.3744C>T (p.Phe1248=) rs200729621
NM_006904.6(PRKDC):c.4009G>A (p.Val1337Ile) rs56080897
NM_006904.6(PRKDC):c.4963-9T>A rs575172711
NM_006904.6(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076
NM_006904.6(PRKDC):c.5269A>G (p.Met1757Val) rs376292677
NM_006904.6(PRKDC):c.5466C>T (p.Arg1822=) rs1418857770
NM_006904.6(PRKDC):c.5559C>T (p.Ser1853=) rs777811841
NM_006904.6(PRKDC):c.5960G>A (p.Arg1987His) rs551812114
NM_006904.6(PRKDC):c.7114C>T (p.Pro2372Ser) rs748925420
NM_006904.6(PRKDC):c.7833C>T (p.Ala2611=) rs375277772
NM_006904.6(PRKDC):c.8819G>A (p.Arg2940His) rs372587440
NM_006904.6(PRKDC):c.9810C>T (p.Asp3270=) rs1361121924
NM_006904.7(PRKDC):c.10323G>A (p.Ala3441=) rs556812055
NM_006904.7(PRKDC):c.10347A>G (p.Lys3449=) rs181688091
NM_006904.7(PRKDC):c.10533C>T (p.Ala3511=) rs367827058
NM_006904.7(PRKDC):c.11121T>C (p.Gly3707=) rs376065323
NM_006904.7(PRKDC):c.11232C>T (p.Asp3744=) rs369155664
NM_006904.7(PRKDC):c.11844C>T (p.Ser3948=) rs774140694
NM_006904.7(PRKDC):c.1279-4G>A rs370317167
NM_006904.7(PRKDC):c.1443T>C (p.Thr481=) rs750894199
NM_006904.7(PRKDC):c.155-13dup rs779456543
NM_006904.7(PRKDC):c.2196T>C (p.Phe732=) rs757608691
NM_006904.7(PRKDC):c.2433T>C (p.Asn811=) rs967068586
NM_006904.7(PRKDC):c.2755C>T (p.Leu919Phe)
NM_006904.7(PRKDC):c.2760A>G (p.Thr920=) rs745648790
NM_006904.7(PRKDC):c.3045T>C (p.Asp1015=) rs187813872
NM_006904.7(PRKDC):c.3270-12dup rs772109927
NM_006904.7(PRKDC):c.34C>T (p.Leu12=) rs1215593528
NM_006904.7(PRKDC):c.3622C>T (p.Leu1208=) rs1589771763
NM_006904.7(PRKDC):c.3911A>G (p.His1304Arg) rs1315944028
NM_006904.7(PRKDC):c.393T>C (p.Leu131=) rs373096832
NM_006904.7(PRKDC):c.4314C>T (p.Gly1438=) rs771018937
NM_006904.7(PRKDC):c.4566A>G (p.Gly1522=) rs1589767137
NM_006904.7(PRKDC):c.4626C>T (p.Ser1542=) rs776255004
NM_006904.7(PRKDC):c.5067+7A>T rs1375934238
NM_006904.7(PRKDC):c.5316T>C (p.His1772=) rs1589759765
NM_006904.7(PRKDC):c.5550G>T (p.Val1850=) rs774776599
NM_006904.7(PRKDC):c.5754G>A (p.Leu1918=) rs202128544
NM_006904.7(PRKDC):c.57G>A (p.Leu19=) rs1224820621
NM_006904.7(PRKDC):c.5868C>T (p.Phe1956=) rs1589750389
NM_006904.7(PRKDC):c.5967T>C (p.Asn1989=) rs1589750131
NM_006904.7(PRKDC):c.5979A>G (p.Glu1993=) rs1589750121
NM_006904.7(PRKDC):c.6208-4G>A rs536722859
NM_006904.7(PRKDC):c.6459A>C (p.Thr2153=) rs1015672207
NM_006904.7(PRKDC):c.6621A>G (p.Lys2207=) rs757287016
NM_006904.7(PRKDC):c.6762-8T>C rs745921001
NM_006904.7(PRKDC):c.693G>C (p.Leu231=) rs751059836
NM_006904.7(PRKDC):c.6951C>T (p.Ala2317=) rs114463099
NM_006904.7(PRKDC):c.69C>T (p.Asp23=) rs1386916416
NM_006904.7(PRKDC):c.7131-5G>A rs759566902
NM_006904.7(PRKDC):c.7230G>A (p.Glu2410=) rs757478932
NM_006904.7(PRKDC):c.7383C>T (p.Phe2461=) rs761453930
NM_006904.7(PRKDC):c.7656G>A (p.Val2552=) rs765831612
NM_006904.7(PRKDC):c.7761+9G>T rs1589731906
NM_006904.7(PRKDC):c.7952-10C>A rs750567576
NM_006904.7(PRKDC):c.8274G>A (p.Lys2758=) rs148855050
NM_006904.7(PRKDC):c.8388C>T (p.Ala2796=) rs373077938
NM_006904.7(PRKDC):c.8652A>G (p.Leu2884=) rs1589724319
NM_006904.7(PRKDC):c.924G>A (p.Leu308=) rs770392874
NM_006904.7(PRKDC):c.9337-4_9337-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT rs11311765
NM_006904.7(PRKDC):c.9337-6_9337-4del rs11311765
NM_006904.7(PRKDC):c.9510T>C (p.Asp3170=) rs757958003
NM_006904.7(PRKDC):c.9804C>G (p.Thr3268=) rs1589707360
NM_006904.7(PRKDC):c.9936_9937del (p.Ser3313fs) rs1589705455
NM_006904.7(PRKDC):c.9966T>G (p.Ala3322=) rs1589705432

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