ClinVar Miner

List of variants in gene TBC1D24 studied for Myoclonic epilepsy, familial infantile

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Total variants: 124
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HGVS dbSNP
NM_001199107.2(TBC1D24):c.*1123C>T rs886051853
NM_001199107.2(TBC1D24):c.*1160G>A rs7201970
NM_001199107.2(TBC1D24):c.*1238G>C rs556946788
NM_001199107.2(TBC1D24):c.*1259G>A rs545082961
NM_001199107.2(TBC1D24):c.*134C>T rs776083218
NM_001199107.2(TBC1D24):c.*1401T>C rs541093768
NM_001199107.2(TBC1D24):c.*1478A>G rs886051854
NM_001199107.2(TBC1D24):c.*1575C>T rs4786286
NM_001199107.2(TBC1D24):c.*1658C>T rs576669692
NM_001199107.2(TBC1D24):c.*1659G>A rs115543208
NM_001199107.2(TBC1D24):c.*1691G>A rs77858505
NM_001199107.2(TBC1D24):c.*1726G>A rs886051855
NM_001199107.2(TBC1D24):c.*1728C>T rs531083004
NM_001199107.2(TBC1D24):c.*1793C>T rs190646700
NM_001199107.2(TBC1D24):c.*1801A>T rs886051856
NM_001199107.2(TBC1D24):c.*1808C>T rs771096293
NM_001199107.2(TBC1D24):c.*1814G>C rs28668740
NM_001199107.2(TBC1D24):c.*188C>T rs62040717
NM_001199107.2(TBC1D24):c.*1898A>T rs886051857
NM_001199107.2(TBC1D24):c.*1929C>G rs886051858
NM_001199107.2(TBC1D24):c.*1954G>A rs886051859
NM_001199107.2(TBC1D24):c.*1995C>T rs886051860
NM_001199107.2(TBC1D24):c.*2001A>G rs529770652
NM_001199107.2(TBC1D24):c.*2395A>G rs11543247
NM_001199107.2(TBC1D24):c.*2529A>T rs565226115
NM_001199107.2(TBC1D24):c.*2540del rs58172016
NM_001199107.2(TBC1D24):c.*2548T>C rs886051861
NM_001199107.2(TBC1D24):c.*2598G>C rs13336179
NM_001199107.2(TBC1D24):c.*2624_*2625dup rs35944492
NM_001199107.2(TBC1D24):c.*2625dup rs35944492
NM_001199107.2(TBC1D24):c.*2754C>T rs886051862
NM_001199107.2(TBC1D24):c.*2755G>A rs577543973
NM_001199107.2(TBC1D24):c.*2811A>G rs866336354
NM_001199107.2(TBC1D24):c.*2834_*2835insA rs548778667
NM_001199107.2(TBC1D24):c.*2849C>A rs556747443
NM_001199107.2(TBC1D24):c.*2850_*2851del rs376511845
NM_001199107.2(TBC1D24):c.*2851C>T rs554566066
NM_001199107.2(TBC1D24):c.*2851del rs376511845
NM_001199107.2(TBC1D24):c.*2851dup rs376511845
NM_001199107.2(TBC1D24):c.*2875dup rs886051864
NM_001199107.2(TBC1D24):c.*2910A>T rs4786287
NM_001199107.2(TBC1D24):c.*2971A>G rs886051865
NM_001199107.2(TBC1D24):c.*2985T>C rs372477976
NM_001199107.2(TBC1D24):c.*3218T>G rs564761307
NM_001199107.2(TBC1D24):c.*3242C>T rs772726094
NM_001199107.2(TBC1D24):c.*3309T>C rs563435346
NM_001199107.2(TBC1D24):c.*3403A>G rs866695696
NM_001199107.2(TBC1D24):c.*3408C>T rs9935554
NM_001199107.2(TBC1D24):c.*3478dup rs901354911
NM_001199107.2(TBC1D24):c.*3491C>T rs886051867
NM_001199107.2(TBC1D24):c.*3569T>C rs550661577
NM_001199107.2(TBC1D24):c.*3594G>A rs188930755
NM_001199107.2(TBC1D24):c.*3612T>C rs886051868
NM_001199107.2(TBC1D24):c.*366A>T rs375446781
NM_001199107.2(TBC1D24):c.*3675A>G rs565311442
NM_001199107.2(TBC1D24):c.*36G>T rs73490289
NM_001199107.2(TBC1D24):c.*3709C>T rs563088852
NM_001199107.2(TBC1D24):c.*3712C>T rs185371000
NM_001199107.2(TBC1D24):c.*3715C>T rs55778555
NM_001199107.2(TBC1D24):c.*3750C>T rs189487145
NM_001199107.2(TBC1D24):c.*3757A>G rs886051869
NM_001199107.2(TBC1D24):c.*3840G>A rs771758071
NM_001199107.2(TBC1D24):c.*3845G>C rs886051870
NM_001199107.2(TBC1D24):c.*387T>C rs886051848
NM_001199107.2(TBC1D24):c.*389C>A rs189378766
NM_001199107.2(TBC1D24):c.*3909C>T rs772992015
NM_001199107.2(TBC1D24):c.*3959G>A rs550975150
NM_001199107.2(TBC1D24):c.*4067C>T rs74003014
NM_001199107.2(TBC1D24):c.*4115A>G rs886051871
NM_001199107.2(TBC1D24):c.*4128G>A rs530237752
NM_001199107.2(TBC1D24):c.*433C>T rs886051849
NM_001199107.2(TBC1D24):c.*4340C>G rs886051872
NM_001199107.2(TBC1D24):c.*4428C>T rs566720700
NM_001199107.2(TBC1D24):c.*4462C>T rs762179233
NM_001199107.2(TBC1D24):c.*4479C>T rs1135527
NM_001199107.2(TBC1D24):c.*4535A>G rs149255113
NM_001199107.2(TBC1D24):c.*4706A>G rs77103420
NM_001199107.2(TBC1D24):c.*528C>T rs886051850
NM_001199107.2(TBC1D24):c.*535C>T rs886051851
NM_001199107.2(TBC1D24):c.*559G>A rs540508501
NM_001199107.2(TBC1D24):c.*56C>T rs76267944
NM_001199107.2(TBC1D24):c.*57C>T rs886051847
NM_001199107.2(TBC1D24):c.*669G>A rs543312779
NM_001199107.2(TBC1D24):c.*732A>G rs4075481
NM_001199107.2(TBC1D24):c.*807G>A rs374953419
NM_001199107.2(TBC1D24):c.*826C>T rs527744116
NM_001199107.2(TBC1D24):c.*836C>T rs4075480
NM_001199107.2(TBC1D24):c.*871G>A rs886051852
NM_001199107.2(TBC1D24):c.-31T>C rs13339105
NM_001199107.2(TBC1D24):c.-36G>A rs754720137
NM_001199107.2(TBC1D24):c.-3G>A rs747461532
NM_001199107.2(TBC1D24):c.-4C>T rs202124579
NM_001199107.2(TBC1D24):c.-53C>T rs549380273
NM_001199107.2(TBC1D24):c.-7C>T rs199852092
NM_001199107.2(TBC1D24):c.-99C>G rs540861763
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715
NM_001199107.2(TBC1D24):c.1126G>A (p.Gly376Arg) rs796053408
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841
NM_001199107.2(TBC1D24):c.1341C>T (p.Ile447=) rs372317366
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107
NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr) rs758665573
NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=) rs779963634
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167
NM_001199107.2(TBC1D24):c.151C>T (p.Arg51Trp) rs886051844
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105
NM_001199107.2(TBC1D24):c.1666C>G (p.Pro556Ala) rs886051846
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883
NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met) rs776539630
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) rs267607103
NM_001199107.2(TBC1D24):c.486T>A (p.Asn162Lys) rs886051845
NM_001199107.2(TBC1D24):c.702G>A (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu) rs267607104
NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met) rs772768393
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) rs545689324
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103
NM_020705.2(TBC1D24):c.[338C>A];[476T>C]

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