List of variants in gene CSPP1 reported as likely pathogenic for Joubert syndrome with Jeune asphyxiating thoracic dystrophy

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001382391.1(CSPP1):c.2128+1G>A	rs199791452	0.00009
NM_001382391.1(CSPP1):c.1497-2A>C	rs766633448	0.00001
NC_000008.10:g.(?_68018120)_(68071392_?)dup
NC_000008.10:g.(?_68024187)_(68044335_?)dup
NM_001382391.1(CSPP1):c.-10-1G>T
NM_001382391.1(CSPP1):c.-54_-51del
NM_001382391.1(CSPP1):c.100-2A>C
NM_001382391.1(CSPP1):c.1022+1G>C
NM_001382391.1(CSPP1):c.1022+1G>T	rs2129547115
NM_001382391.1(CSPP1):c.1187+1G>A
NM_001382391.1(CSPP1):c.1188-2A>G
NM_001382391.1(CSPP1):c.1828-1G>C
NM_001382391.1(CSPP1):c.2129-2A>G	rs2129559034
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)	rs1402669959
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs)	rs1827118960
NM_001382391.1(CSPP1):c.2552del (p.Pro851fs)	rs2129561783
NM_001382391.1(CSPP1):c.483+2T>A
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)	rs766020802

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