ClinVar Miner

List of variants in gene TBCK reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001163435.3(TBCK):c.456-181T>A rs11942161 0.99998
NM_001163435.3(TBCK):c.796C>G (p.Gln266Glu) rs3775091 0.99817
NM_001163435.3(TBCK):c.597+222A>G rs4415033 0.94984
NM_001163435.3(TBCK):c.1513-52A>G rs13138528 0.59870
NM_001163435.3(TBCK):c.1449+61G>C rs7668276 0.59546
NM_001163435.3(TBCK):c.1351-111A>G rs7693448 0.59233
NM_001163435.3(TBCK):c.2236-95G>A rs78488187 0.20097
NM_001163435.3(TBCK):c.2236-120T>C rs79026220 0.20082
NM_001163435.3(TBCK):c.1848T>C (p.Gly616=) rs17036613 0.20033
NM_001163435.3(TBCK):c.1897+210G>T rs17273445 0.18640
NM_001163435.3(TBCK):c.1861-49T>C rs12506062 0.18584
NM_001163435.3(TBCK):c.-29-217A>G rs6827816 0.15325
NM_001163435.3(TBCK):c.598-12C>T rs41277029 0.14805
NM_001163435.3(TBCK):c.2235+83T>C rs10516532 0.13869
NM_001163435.3(TBCK):c.783-76C>A rs3775090 0.13677
NM_001163435.3(TBCK):c.1413G>A (p.Met471Ile) rs34961213 0.12422
NM_001163435.3(TBCK):c.266+139A>G rs62318091 0.07881
NM_001163435.3(TBCK):c.1071-47A>G rs9996386 0.06584
NM_001163435.3(TBCK):c.2411+205C>G rs28648796 0.06472
NM_001163435.3(TBCK):c.1707T>C (p.Cys569=) rs56312801 0.04907
NM_001163435.3(TBCK):c.1897+191A>G rs57675949 0.04903
NM_001163435.3(TBCK):c.931+195G>C rs56857547 0.03662
NM_001163435.3(TBCK):c.1070+98A>T rs59769617 0.02980
NM_001163435.3(TBCK):c.1274C>T (p.Thr425Met) rs34307452 0.02963
NM_001163435.3(TBCK):c.266+10dup rs111238095 0.02934
NM_001163435.3(TBCK):c.598-27A>G rs58172732 0.01973
NM_001163435.3(TBCK):c.1170+69G>A rs73838172 0.01970
NM_001163435.3(TBCK):c.194-93G>A rs56313516 0.01967
NM_001163435.3(TBCK):c.783-84T>C rs73838174 0.01963
NM_001163435.3(TBCK):c.1450-45A>G rs73838164 0.01475
NM_001163435.3(TBCK):c.433G>A (p.Asp145Asn) rs115723993 0.01330
NM_001163435.3(TBCK):c.1898-20G>T rs45462491 0.00895
NM_001163435.3(TBCK):c.1512+13T>C rs183520368 0.00375
NM_001163435.3(TBCK):c.1335C>T (p.Phe445=) rs147384249 0.00281
NM_001163435.3(TBCK):c.1608A>G (p.Val536=) rs55956749 0.00226
NM_001163435.3(TBCK):c.2397C>A (p.Ile799=) rs150586131 0.00169
NM_001163435.3(TBCK):c.1897+18C>T rs146770919 0.00118
NM_001163435.3(TBCK):c.1566A>G (p.Pro522=) rs145621380 0.00101
NM_001163435.3(TBCK):c.2060-6A>G rs200076666 0.00070
NM_001163435.3(TBCK):c.658G>A (p.Asp220Asn) rs200690220 0.00054
NM_001163435.3(TBCK):c.2468C>T (p.Thr823Ile) rs61733982 0.00044
NM_001163435.3(TBCK):c.1690+4A>T rs56317078 0.00031
NM_001163435.3(TBCK):c.2214A>G (p.Pro738=) rs538674033 0.00010
NM_001163435.3(TBCK):c.2660C>T (p.Thr887Ile) rs564746642 0.00001
NM_001163435.3(TBCK):c.54T>C (p.Ala18=) rs199931633 0.00001
NM_001163435.3(TBCK):c.932-11G>A rs541804963 0.00001
NM_001163435.3(TBCK):c.1070+97del rs58634260
NM_001163435.3(TBCK):c.1171-183G>T rs11938792
NM_001163435.3(TBCK):c.1221-24del rs113636427
NM_001163435.3(TBCK):c.1221-25_1221-24del rs113636427
NM_001163435.3(TBCK):c.1275G>A (p.Thr425=) rs139522309
NM_001163435.3(TBCK):c.1449+17del
NM_001163435.3(TBCK):c.1450-98del rs141946111
NM_001163435.3(TBCK):c.1639+76del rs147273756
NM_001163435.3(TBCK):c.1640-11del
NM_001163435.3(TBCK):c.1860+35dup rs368657242
NM_001163435.3(TBCK):c.1860+45del rs368657242
NM_001163435.3(TBCK):c.1897+18del rs1754021504
NM_001163435.3(TBCK):c.2060-140dup rs11386971
NM_001163435.3(TBCK):c.2236-19del rs200815502
NM_001163435.3(TBCK):c.2236-27dup rs200815502
NM_001163435.3(TBCK):c.2236-4del rs750862111
NM_001163435.3(TBCK):c.2236-4dup rs750862111
NM_001163435.3(TBCK):c.2412-155del rs34901247
NM_001163435.3(TBCK):c.2446A>C (p.Ile816Leu) rs200742458
NM_001163435.3(TBCK):c.2572-5del
NM_001163435.3(TBCK):c.2572-5dup rs771058414
NM_001163435.3(TBCK):c.266+177_266+178del rs55993224
NM_001163435.3(TBCK):c.382-15del rs1207637087
NM_001163435.3(TBCK):c.382-15dup rs1207637087
NM_001163435.3(TBCK):c.598-7_598-3del rs139991421
NM_001163435.3(TBCK):c.658+9C>G rs184112037
NM_001163435.3(TBCK):c.659-5del
NM_001163435.3(TBCK):c.796= (p.Gln266=)

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