ClinVar Miner

List of variants reported as likely benign 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: 28
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HGVS dbSNP
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001134831.2(AHI1):c.*396_*397dup rs397885237
NM_001161454.1(CYB561A3):c.-749T>C rs7120780
NM_001174150.2(ARL13B):c.*1136A>G rs78386221
NM_001174150.2(ARL13B):c.*1705T>C rs567211919
NM_001174150.2(ARL13B):c.*703C>T rs75280469
NM_001174150.2(ARL13B):c.-234G>T rs114936013
NM_001174150.2(ARL13B):c.-257C>T rs73846074
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211
NM_001257159.1(CEP41):c.-144G>A rs10230435
NM_001257159.1(CEP41):c.-178C>T rs10230670
NM_001378615.1(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320
NM_019892.6(INPP5E):c.*926T>C rs1128877
NM_019892.6(INPP5E):c.*98G>A rs35873563
NM_019892.6(INPP5E):c.-174G>A rs544247720
NM_019892.6(INPP5E):c.-31G>C rs554931078
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831
NM_019892.6(INPP5E):c.813-5C>G rs186462782
NM_023073.3(CPLANE1):c.-234G>C rs80164363
NM_023073.3(CPLANE1):c.4190-10_4190-9del rs111508546
NM_023073.3(CPLANE1):c.8471-3del rs34646696
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_025114.4(CEP290):c.*19_*22del rs142288119

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