List of variants reported as pathogenic for Joubert syndrome by Revvity Omics, Revvity

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)	rs199469707	0.00006
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)	rs587777138	0.00004
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)	rs375113643	0.00004
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)	rs751734985	0.00001
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)	rs774628957	0.00001
NM_001044385.3(TMEM237):c.62del (p.Pro21fs)	rs1574587553
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter)	rs2128081591
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)	rs121434350
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer)	rs2128071123
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs)	rs1463748841
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter)	rs1821344202
NM_001382391.1(CSPP1):c.2538+1G>T	rs2129560295

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