List of variants reported as pathogenic for Joubert syndrome by 3billion

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)	rs142375551	0.00007
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_025114.4(CEP290):c.6012-12T>A	rs752197734	0.00002
NM_001134831.2(AHI1):c.1779+1G>T	rs753655744	0.00001
NM_001134831.2(AHI1):c.1889del (p.Ser630fs)	rs1786487832	0.00001
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter)	rs529437224	0.00001
NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter)	rs775285273	0.00001
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter)	rs771203308	0.00001
NM_025114.4(CEP290):c.1711+1G>A	rs587783009	0.00001
NM_153704.6(TMEM67):c.1353del (p.Glu452fs)	rs749435317	0.00001
NM_001044385.3(TMEM237):c.869+1G>A	rs730882231
NM_001134831.2(AHI1):c.1326del (p.Val443fs)	rs1788834778
NM_001134831.2(AHI1):c.1760G>A (p.Trp587Ter)
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)	rs1786504555
NM_025114.4(CEP290):c.1666del (p.Ile556fs)	rs727503855
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)	rs770126103
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)	rs1592833648

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