List of variants in gene RPGRIP1L reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)	rs79708859	0.00517
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)	rs138155747	0.00322
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)	rs139503476	0.00157
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)	rs151332923	0.00061
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)	rs148230131	0.00021
NM_015272.5(RPGRIP1L):c.250C>T (p.Arg84Trp)	rs770098954	0.00003
NM_015272.5(RPGRIP1L):c.1700-16G>T	rs1555604481
NM_015272.5(RPGRIP1L):c.3187G>T (p.Glu1063Ter)	rs1057520162

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