List of variants in gene combination ARFGEF1, CSPP1 reported as pathogenic for Joubert syndrome and related disorders

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter)	rs760275528	0.00001
NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter)	rs200881715
NM_001382391.1(CSPP1):c.3220+1G>A	rs773954226
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter)	rs587777141
NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs)
NM_001382391.1(CSPP1):c.3368_3371del (p.Leu1122_Ser1123insTer)	rs1206214608
NM_001382391.1(CSPP1):c.3405_3406del (p.Arg1136fs)	rs2129575958
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer)	rs1175214174

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