List of variants reported as likely pathogenic for Joubert syndrome 15

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_018718.3(CEP41):c.278-1G>A	rs1796956272	0.00001
NM_018718.3(CEP41):c.942_943del (p.Glu315fs)	rs1584867379	0.00001
NM_018718.3(CEP41):c.757+2T>A
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
NM_018718.3(CEP41):c.98-2A>G

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