List of variants in gene RPGRIP1L reported as pathogenic for Joubert syndrome and related disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	rs121918198	0.00004
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)	rs745413543	0.00001
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)	rs542206983
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)	rs121918199

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