List of variants in gene RPGRIP1 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu)	rs6571751	0.48811
NM_020366.4(RPGRIP1):c.1797G>A (p.Pro599=)	rs9322965	0.22187
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)	rs10151259	0.21790
NM_020366.4(RPGRIP1):c.2215+7G>A	rs7157052	0.19970
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)	rs759940113	0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)	rs1429786931	0.00001
NM_020366.4(RPGRIP1):c.1948C>T (p.Pro650Ser)	rs1740380459
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter)	rs776289402
NM_020366.4(RPGRIP1):c.799C>T (p.Arg267Ter)	rs554396590

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