ClinVar Miner

List of variants in gene CEP41 studied for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP
CEP41, 3-BP DEL, IVS1DS, 97GAG
CEP41, IVS1DS, T-G, +2
CEP41, IVS6AS, A-C, -2
CEP41, SER28TER
NM_001257159.1(CEP41):c.-144G>A rs10230435
NM_001257159.1(CEP41):c.-178C>A rs10230670
NM_001257159.1(CEP41):c.-178C>T rs10230670
NM_001257159.1(CEP41):c.-243G>A rs542293061
NM_001257159.1(CEP41):c.-244A>T rs886062003
NM_018718.3(CEP41):c.*1056A>C rs574982700
NM_018718.3(CEP41):c.*1357del rs886061999
NM_018718.3(CEP41):c.*1384del rs55776575
NM_018718.3(CEP41):c.*1384dup rs55776575
NM_018718.3(CEP41):c.*1385T>G rs781845516
NM_018718.3(CEP41):c.*1386dup rs886061997
NM_018718.3(CEP41):c.*1411G>T rs886061996
NM_018718.3(CEP41):c.*1579T>C rs554826749
NM_018718.3(CEP41):c.*1859G>T rs73152869
NM_018718.3(CEP41):c.*1931C>T rs17133175
NM_018718.3(CEP41):c.*2041G>A rs73152868
NM_018718.3(CEP41):c.*2159C>T rs886061995
NM_018718.3(CEP41):c.*2194C>T rs886061994
NM_018718.3(CEP41):c.*2386A>G rs886061993
NM_018718.3(CEP41):c.*2389G>A rs73152867
NM_018718.3(CEP41):c.*2482A>T rs189091601
NM_018718.3(CEP41):c.*2605C>T rs886061992
NM_018718.3(CEP41):c.*277A>G rs886062001
NM_018718.3(CEP41):c.*2896G>A rs147207980
NM_018718.3(CEP41):c.*3044A>G rs886061991
NM_018718.3(CEP41):c.*3069T>C rs886061990
NM_018718.3(CEP41):c.*3193C>T rs886061989
NM_018718.3(CEP41):c.*3274G>A rs112007936
NM_018718.3(CEP41):c.*333C>T rs886062000
NM_018718.3(CEP41):c.*3451G>A rs144534675
NM_018718.3(CEP41):c.*3507C>T rs149385617
NM_018718.3(CEP41):c.*3526dup rs3839655
NM_018718.3(CEP41):c.*3741A>T rs532169706
NM_018718.3(CEP41):c.*3765G>T rs138768326
NM_018718.3(CEP41):c.*3887C>G rs62471754
NM_018718.3(CEP41):c.*3965A>G rs781992723
NM_018718.3(CEP41):c.*4007C>T rs782719854
NM_018718.3(CEP41):c.*4037A>G rs7793239
NM_018718.3(CEP41):c.*409A>C rs782042681
NM_018718.3(CEP41):c.*4216C>T rs187549864
NM_018718.3(CEP41):c.*4244C>G rs544508687
NM_018718.3(CEP41):c.*4295G>C rs4728195
NM_018718.3(CEP41):c.*4314T>C rs114939029
NM_018718.3(CEP41):c.*4365G>A rs535299613
NM_018718.3(CEP41):c.*4391G>A rs782450438
NM_018718.3(CEP41):c.*4417G>A rs886061988
NM_018718.3(CEP41):c.*4464T>C rs886061987
NM_018718.3(CEP41):c.*4599A>G rs753024852
NM_018718.3(CEP41):c.*4659C>G rs886061986
NM_018718.3(CEP41):c.*4866C>T rs782719539
NM_018718.3(CEP41):c.*4908G>A rs552988501
NM_018718.3(CEP41):c.*4973C>T rs760160179
NM_018718.3(CEP41):c.*4994T>C rs527933839
NM_018718.3(CEP41):c.*5068G>A rs148856430
NM_018718.3(CEP41):c.*5102G>A rs1990790
NM_018718.3(CEP41):c.*593G>A rs186685101
NM_018718.3(CEP41):c.*680G>A rs146622910
NM_018718.3(CEP41):c.*705G>A rs782543502
NM_018718.3(CEP41):c.*747G>A rs782582354
NM_018718.3(CEP41):c.*805A>G rs145808545
NM_018718.3(CEP41):c.*859G>A rs781930185
NM_018718.3(CEP41):c.-41C>T rs886062002
NM_018718.3(CEP41):c.-5A>C rs2287371
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg) rs116313397
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_018718.3(CEP41):c.208-5A>G rs11765434
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter) rs1562984087
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) rs200516165
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser)
NM_018718.3(CEP41):c.422+6C>T rs199678365
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu) rs111688621
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533

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