ClinVar Miner

List of variants in gene TBCK reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001163435.3(TBCK):c.456-181T>A rs11942161 0.99997
NM_001163435.3(TBCK):c.597+222A>G rs4415033 0.94276
NM_001163435.3(TBCK):c.1513-52A>G rs13138528 0.59663
NM_001163435.3(TBCK):c.1449+61G>C rs7668276 0.59356
NM_001163435.3(TBCK):c.1351-111A>G rs7693448 0.59067
NM_001163435.3(TBCK):c.2236-95G>A rs78488187 0.20305
NM_001163435.3(TBCK):c.2236-120T>C rs79026220 0.20290
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 0.18639
NM_001163435.3(TBCK):c.-29-217A>G rs6827816 0.15673
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.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 0.06277
NM_001163435.3(TBCK):c.1707T>C (p.Cys569=) rs56312801 0.04907
NM_001163435.3(TBCK):c.1897+191A>G rs57675949 0.04562
NM_001163435.3(TBCK):c.931+195G>C rs56857547 0.03409
NM_001163435.3(TBCK):c.266+10dup rs111238095 0.02934
NM_001163435.3(TBCK):c.1070+98A>T rs59769617 0.02758
NM_001163435.3(TBCK):c.598-27A>G rs58172732 0.01973
NM_001163435.3(TBCK):c.194-93G>A rs56313516 0.01967
NM_001163435.3(TBCK):c.1170+69G>A rs73838172 0.01843
NM_001163435.3(TBCK):c.783-84T>C rs73838174 0.01837
NM_001163435.3(TBCK):c.1450-45A>G rs73838164 0.01377
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.1450-98del rs141946111
NM_001163435.3(TBCK):c.1639+76del rs147273756
NM_001163435.3(TBCK):c.1860+35dup rs368657242
NM_001163435.3(TBCK):c.1860+45del rs368657242
NM_001163435.3(TBCK):c.2060-140dup rs11386971
NM_001163435.3(TBCK):c.2412-155del rs34901247
NM_001163435.3(TBCK):c.266+177_266+178del rs55993224
NM_001163435.3(TBCK):c.598-7_598-3del rs139991421

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