ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 145
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HGVS dbSNP
NM_000272.4(NPHP1):c.*333_*335AAC[1] rs555468187
NM_000272.4(NPHP1):c.635_637AAG[5] (p.Glu215dup) rs777677768
NM_001009894.3(C12orf29):c.*618_*621TATT[1] rs886049876
NM_001044385.2(TMEM237):c.-126G>A rs572770188
NM_001044385.3(TMEM237):c.*258del rs558670305
NM_001044385.3(TMEM237):c.*3513del rs143218667
NM_001044385.3(TMEM237):c.*470_*473del rs886055445
NM_001044385.3(TMEM237):c.*714_*715del rs373844800
NM_001080522.2(CC2D2A):c.2339-10_2339-9del rs886059157
NM_001080522.2(CC2D2A):c.2486+8A>G rs749186859
NM_001080522.2(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001134831.2(AHI1):c.*1116_*1118TAT[1] rs886061104
NM_001134831.2(AHI1):c.*447T>A rs886061106
NM_001134831.2(AHI1):c.*500_*504del rs886061105
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_001161454.1(CYB561A3):c.-538_-536del rs369988724
NM_001161454.1(CYB561A3):c.-539G>A rs530037192
NM_001161454.1(CYB561A3):c.-578T>G rs192845534
NM_001161454.1(CYB561A3):c.-707T>G rs886048406
NM_001161454.1(CYB561A3):c.-753G>T rs548180077
NM_001161454.1(CYB561A3):c.-763C>T rs775592054
NM_001173990.3(TMEM216):c.230-9G>A rs886048412
NM_001174150.2(ARL13B):c.*1001A>C rs538413974
NM_001174150.2(ARL13B):c.*1654T>C rs886058935
NM_001174150.2(ARL13B):c.*1718G>A rs183639595
NM_001174150.2(ARL13B):c.*1775G>A rs563142267
NM_001174150.2(ARL13B):c.*1818_*1822ATATA[1] rs752990716
NM_001174150.2(ARL13B):c.*1826T>C rs548945864
NM_001174150.2(ARL13B):c.*194A>C rs370306318
NM_001174150.2(ARL13B):c.*2009T>C rs538221197
NM_001174150.2(ARL13B):c.*2026T>C rs571746079
NM_001174150.2(ARL13B):c.*2297T>C rs149269561
NM_001174150.2(ARL13B):c.*2316G>A rs757759984
NM_001174150.2(ARL13B):c.*2318G>A rs571764907
NM_001174150.2(ARL13B):c.*2363C>G rs146137797
NM_001174150.2(ARL13B):c.*272C>T rs886058933
NM_001174150.2(ARL13B):c.*2C>T rs377420487
NM_001174150.2(ARL13B):c.*357A>G rs561009587
NM_001174150.2(ARL13B):c.*393T>C rs530141372
NM_001174150.2(ARL13B):c.*765T>G rs886058934
NM_001174150.2(ARL13B):c.-157T>C rs745658300
NM_001174150.2(ARL13B):c.-263C>T rs143828740
NM_001174150.2(ARL13B):c.-40T>G rs886058931
NM_001174150.2(ARL13B):c.-50C>A rs199505618
NM_001174150.2(ARL13B):c.-92G>T rs754026490
NM_001174150.2(ARL13B):c.1006C>T (p.Arg336Trp) rs774235804
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln) rs550306731
NM_001174150.2(ARL13B):c.1045A>G (p.Lys349Glu) rs139063474
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035
NM_001174150.2(ARL13B):c.1270C>T (p.His424Tyr) rs886058932
NM_001174150.2(ARL13B):c.30C>T (p.Gly10=) rs375770842
NM_001174150.2(ARL13B):c.690-10C>T rs373752093
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys) rs139997243
NM_001257159.1(CEP41):c.-178C>A rs10230670
NM_001257159.1(CEP41):c.-243G>A rs542293061
NM_001257159.1(CEP41):c.-244A>T rs886062003
NM_015272.5(RPGRIP1L):c.*901A>G rs750903762
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu) rs886052093
NM_015272.5(RPGRIP1L):c.3617-21dup rs750499169
NM_016464.4(TMEM138):c.-226C>G rs545702620
NM_016464.4(TMEM138):c.-239C>T rs146156958
NM_016464.4(TMEM138):c.-255C>T rs112115349
NM_016464.5(TMEM138):c.128+15G>A rs886048408
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.*1386dup rs886061997
NM_018718.3(CEP41):c.*3741A>T rs532169706
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743
NM_019892.6(INPP5E):c.*13G>A
NM_019892.6(INPP5E):c.*213C>T
NM_019892.6(INPP5E):c.*235A>G rs376604726
NM_019892.6(INPP5E):c.*484C>G
NM_019892.6(INPP5E):c.*559C>T
NM_019892.6(INPP5E):c.*582C>T
NM_019892.6(INPP5E):c.*630G>A rs539039743
NM_019892.6(INPP5E):c.*721C>T rs886063710
NM_019892.6(INPP5E):c.*727C>T rs886063709
NM_019892.6(INPP5E):c.*747T>C rs191248562
NM_019892.6(INPP5E):c.*763G>C rs564573606
NM_019892.6(INPP5E):c.*811G>A
NM_019892.6(INPP5E):c.*913T>C rs886063708
NM_019892.6(INPP5E):c.-149C>T
NM_019892.6(INPP5E):c.-175C>T
NM_019892.6(INPP5E):c.-239C>G rs562519905
NM_019892.6(INPP5E):c.-271C>T rs886063714
NM_019892.6(INPP5E):c.-343T>C rs886063715
NM_019892.6(INPP5E):c.-347G>A rs886063716
NM_019892.6(INPP5E):c.-41C>T
NM_019892.6(INPP5E):c.1009G>C (p.Gly337Arg)
NM_019892.6(INPP5E):c.1034+8G>A
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)
NM_019892.6(INPP5E):c.1104C>T (p.His368=) rs148592275
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys) rs200518324
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286
NM_019892.6(INPP5E):c.1192G>A (p.Val398Met)
NM_019892.6(INPP5E):c.1279+14T>C rs886063711
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile) rs201043370
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys) rs886063713
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=) rs145543466
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr) rs200837258
NM_019892.6(INPP5E):c.1388-5C>T rs187956407
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=) rs377483407
NM_019892.6(INPP5E):c.1453G>A (p.Gly485Arg)
NM_019892.6(INPP5E):c.1479G>A (p.Leu493=) rs754015058
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=) rs780119172
NM_019892.6(INPP5E):c.1547A>G (p.Lys516Arg)
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=)
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr) rs187724945
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser) rs754964359
NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala)
NM_019892.6(INPP5E):c.812+3AGGG[3] rs5901103
NM_019892.6(INPP5E):c.813-8C>T rs373176644
NM_019892.6(INPP5E):c.875G>A (p.Arg292His) rs199873582
NM_023073.3(CPLANE1):c.1554A>T (p.Arg518Ser) rs886060583
NM_023073.3(CPLANE1):c.7438dup (p.Arg2480fs) rs886060575
NM_023073.3(CPLANE1):c.792T>C (p.Asp264=) rs886060585
NM_023073.3(CPLANE1):c.8501+8_8501+12del rs763664569
NM_023073.3(CPLANE1):c.8668G>C (p.Asp2890His) rs761880579
NM_024753.4(TTC21B):c.-107C>T rs545898884
NM_024753.4(TTC21B):c.-75A>C rs886055032
NM_024753.4(TTC21B):c.-82C>G rs543599575
NM_024753.4(TTC21B):c.-89C>G rs868157832
NM_024753.4(TTC21B):c.-91T>C rs772121352
NM_024753.4(TTC21B):c.-94C>T rs563836188
NM_024753.5(TTC21B):c.*1123dup rs886055020
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys) rs886055028
NM_024809.5(TCTN2):c.*45G>A rs142969969
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_153704.6(TMEM67):c.119_124CTTTCC[3] (p.Pro42_Phe43dup) rs886063171

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