ClinVar Miner

List of variants reported as benign for Joubert syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NM_000272.4(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001134831.2(AHI1):c.*1051_*1054ATTT[1] rs144339517
NM_001134831.2(AHI1):c.*218C>T rs1052502
NM_001134831.2(AHI1):c.1780-14C>T rs2757645
NM_001134831.2(AHI1):c.3426+13G>A rs6914831
NM_001173990.2(TMEM216):c.432-11_432-10insA rs11382548
NM_001173990.3(TMEM216):c.*558G>A rs7607
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_017651.4(AHI1):c.-293G>T rs13197384
NM_018718.3(CEP41):c.*3526dup rs3839655
NM_018718.3(CEP41):c.*4295G>C rs4728195
NM_018718.3(CEP41):c.*5102G>A rs1990790
NM_018718.3(CEP41):c.-5A>C rs2287371
NM_019892.5(INPP5E):c.812+7_812+10delAGGG rs5901103
NM_019892.6(INPP5E):c.*328T>C rs35763810
NM_019892.6(INPP5E):c.*703A>G rs1128874
NM_019892.6(INPP5E):c.*816A>G rs8413
NM_019892.6(INPP5E):c.1159+8C>T rs73566945
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194
NM_023073.3(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911
NM_024753.4(TTC21B):c.-145G>A rs111867313
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.3574-9delT rs10717563
NM_025114.3(CEP290):c.6522+12dupT rs11405846
NM_025114.3(CEP290):c.853-12_853-11insG rs71082425
NM_153704.5(TMEM67):c.1066-3C>T rs3097427
NM_153704.5(TMEM67):c.1810A>G (p.Ile604Val) rs3134031

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