ClinVar Miner

List of variants reported as likely benign for Joubert syndrome with ocular defect by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP
NM_001044385.3(TMEM237):c.*1107C>T rs143516209
NM_001044385.3(TMEM237):c.*1588G>A
NM_001044385.3(TMEM237):c.*1975C>G
NM_001044385.3(TMEM237):c.*2137A>G
NM_001044385.3(TMEM237):c.*2142G>C rs76042698
NM_001044385.3(TMEM237):c.*2180G>A
NM_001044385.3(TMEM237):c.*2349C>T
NM_001044385.3(TMEM237):c.*2431T>G rs142355657
NM_001044385.3(TMEM237):c.*2480T>G rs75655554
NM_001044385.3(TMEM237):c.*2719G>A rs142852956
NM_001044385.3(TMEM237):c.*3124A>T
NM_001044385.3(TMEM237):c.*3372C>T rs192214909
NM_001044385.3(TMEM237):c.*3453T>G rs77771615
NM_001044385.3(TMEM237):c.*439G>A
NM_001044385.3(TMEM237):c.*634C>T
NM_001044385.3(TMEM237):c.-25G>A rs568671275
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.3(TMEM237):c.136+8G>A rs200618675
NM_001044385.3(TMEM237):c.80-11T>C rs76296365
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser)
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met) rs370400336
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=) rs199708272
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)
NM_018718.3(CEP41):c.*1336A>G
NM_018718.3(CEP41):c.*136T>G
NM_018718.3(CEP41):c.*1512C>T
NM_018718.3(CEP41):c.*1534T>C
NM_018718.3(CEP41):c.*1567A>C
NM_018718.3(CEP41):c.*2481T>A
NM_018718.3(CEP41):c.*2896G>A rs147207980
NM_018718.3(CEP41):c.*392G>A
NM_018718.3(CEP41):c.*4314T>C rs114939029
NM_018718.3(CEP41):c.*4594C>T
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165
NM_018718.3(CEP41):c.208-5A>G rs11765434
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736

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