ClinVar Miner

List of variants studied for Joubert syndrome 24 by Illumina Laboratory Services, Illumina

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_024809.5(TCTN2):c.*468C>T rs7398298 0.36606
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_024809.5(TCTN2):c.*155G>A rs12811354 0.31018
NM_024809.5(TCTN2):c.*412T>C rs112525270 0.05727
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153 0.05717
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301 0.05714
NM_024809.5(TCTN2):c.83-4C>T rs73416299 0.05712
NM_024809.5(TCTN2):c.*87C>T rs113292231 0.05704
NM_024809.5(TCTN2):c.-55C>A rs78846567 0.03708
NM_024809.5(TCTN2):c.-95G>A rs7980060 0.02722
NM_024809.5(TCTN2):c.1612+12C>T rs117614122 0.01410
NM_024809.5(TCTN2):c.*67C>T rs112214860 0.01216
NM_024809.5(TCTN2):c.*45G>A rs142969969 0.01053
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131 0.01030
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562 0.01028
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326 0.00978
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556 0.00376
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216 0.00236
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437 0.00188
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641 0.00143
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149 0.00124
NM_024809.5(TCTN2):c.*258G>C rs540710300 0.00109
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349 0.00070
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100 0.00068
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033 0.00046
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala) rs146698907 0.00039
NM_024809.5(TCTN2):c.*477G>A rs147565143 0.00038
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu) rs201140519 0.00022
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) rs137939978 0.00021
NM_024809.5(TCTN2):c.588G>A (p.Thr196=) rs201545344 0.00011
NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys) rs369121651 0.00009
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu) rs372687837 0.00009
NM_024809.5(TCTN2):c.564+3A>C rs761089886 0.00008
NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr) rs372235872 0.00006
NM_024809.5(TCTN2):c.1662C>T (p.Asn554=) rs553095875 0.00006
NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr) rs147746146 0.00006
NM_024809.5(TCTN2):c.267+3A>G rs748772785 0.00005
NM_024809.5(TCTN2):c.*146C>T rs1046414186 0.00004
NM_024809.5(TCTN2):c.*587C>T rs548909798 0.00004
NM_024809.5(TCTN2):c.1329G>A (p.Lys443=) rs543166165 0.00004
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=) rs201834126 0.00004
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln) rs778418417 0.00002
NM_024809.5(TCTN2):c.289A>G (p.Arg97Gly) rs1226080375 0.00002
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val) rs768824874 0.00002
NM_024809.5(TCTN2):c.*559C>T rs1427290366 0.00001
NM_024809.5(TCTN2):c.-15C>T rs575728856 0.00001
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682 0.00001
NM_024809.5(TCTN2):c.1393+15T>C rs541103051 0.00001
NM_024809.5(TCTN2):c.1394-6T>C rs774357206 0.00001
NM_024809.5(TCTN2):c.1872A>G (p.Ala624=) rs765238420 0.00001
NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys) rs757725319 0.00001
NM_024809.5(TCTN2):c.677G>A (p.Arg226His) rs774785140 0.00001
NM_024809.5(TCTN2):c.796T>C (p.Tyr266His) rs770325331 0.00001
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) rs750458642 0.00001
NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu) rs759754931 0.00001
NM_024809.5(TCTN2):c.*166T>G rs886049057
NM_024809.5(TCTN2):c.*290C>G rs886531596
NM_024809.5(TCTN2):c.*493T>A rs569489612
NM_024809.5(TCTN2):c.*562G>C rs772401980
NM_024809.5(TCTN2):c.*608T>C rs1956257782
NM_024809.5(TCTN2):c.*71T>G rs1956249051
NM_024809.5(TCTN2):c.1267T>G (p.Leu423Val) rs1956093773
NM_024809.5(TCTN2):c.1573G>C (p.Asp525His) rs763505614
NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg) rs886049056
NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu) rs1393954437
NM_024809.5(TCTN2):c.464-7T>A rs1955862855
NM_024809.5(TCTN2):c.490G>T (p.Val164Leu) rs776834352
NM_024809.5(TCTN2):c.615C>A (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.671C>A (p.Thr224Lys) rs376996387
NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys) rs368146331
NM_024809.5(TCTN2):c.813A>C (p.Ala271=) rs886049054
NM_024809.5(TCTN2):c.892G>C (p.Val298Leu) rs886049055

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