List of variants in gene RPGRIP1L reported as likely benign for Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_015272.5(RPGRIP1L):c.3701+19A>C	rs199926524	0.00099
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=)	rs11860753	0.00030
NM_015272.5(RPGRIP1L):c.3702-16A>G	rs372739127	0.00030
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=)	rs140241814	0.00016
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=)	rs375774377	0.00012
NM_015272.5(RPGRIP1L):c.2683+7C>T	rs768922800	0.00010
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=)	rs760245904	0.00006
NM_015272.5(RPGRIP1L):c.3701+14G>A	rs370009233	0.00005
NM_015272.5(RPGRIP1L):c.1244-18G>A	rs923409583	0.00004
NM_015272.5(RPGRIP1L):c.1582-11T>G	rs182981308	0.00004
NM_015272.5(RPGRIP1L):c.2875-19A>G	rs370091137	0.00003
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=)	rs762140481	0.00003
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=)	rs966605945	0.00002
NM_015272.5(RPGRIP1L):c.231-4C>A	rs774628905	0.00002
NM_015272.5(RPGRIP1L):c.1029+8C>T	rs367844249	0.00001
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg)	rs766357656	0.00001
NM_015272.5(RPGRIP1L):c.3616+9G>T	rs934455196	0.00001
NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=)	rs1239622461	0.00001
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=)	rs1266143274	0.00001
NM_015272.5(RPGRIP1L):c.882+12A>G	rs1264347960	0.00001
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr)	rs200773352
NM_015272.5(RPGRIP1L):c.1699+14G>T	rs188075133
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=)	rs745879566
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=)	rs138669723
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His)	rs574091991
NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=)	rs1966518935
NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=)	rs1970448329
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=)	rs1598310040
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=)	rs2151058712
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=)	rs1022259426

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