ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180

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