ClinVar Miner

List of variants reported as likely benign for Joubert syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814 0.36518
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_019892.6(INPP5E):c.*98G>A rs35873563 0.20643
NM_001134831.2(AHI1):c.*396_*397dup rs397885237 0.11907
NM_019892.6(INPP5E):c.*926T>C rs1128877 0.10951
NM_018718.2(CEP41):c.-144G>A rs10230435 0.08654
NM_023073.3(CPLANE1):c.-234G>C rs80164363 0.08017
NM_016464.4(TMEM138):c.-308A>G rs7120780 0.04768
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956 0.02787
NM_019892.6(INPP5E):c.-174G>A rs544247720 0.01935
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_019892.6(INPP5E):c.-31G>C rs554931078 0.00466
NM_019892.6(INPP5E):c.813-5C>G rs186462782 0.00238
NM_001009894.3(RLIG1):c.*743_*746del rs142288119
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001384732.1(CPLANE1):c.4190-10_4190-9del rs111508546
NM_001384732.1(CPLANE1):c.8633-3del rs34646696
NM_018718.2(CEP41):c.-178C>T rs10230670
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_024753.5(TTC21B):c.2569-10dup rs144600502

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