List of variants in gene RPGRIP1 studied for Leber congenital amaurosis

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.1468-2A>G	rs751342895	0.00004
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)	rs775935766	0.00002
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)	rs565837539	0.00002
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)	rs759940113	0.00001
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter)	rs398124354	0.00001
NM_020366.4(RPGRIP1):c.2895+1G>T	rs748072501	0.00001
NM_020366.4(RPGRIP1):c.564A>G (p.Glu188=)	rs574462207	0.00001
NM_020366.3(RPGRIP1):c.[2302C>T];[3565_3571del]
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)	rs61751266
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs)	rs776880045
NM_020366.4(RPGRIP1):c.1152-1749_1763-1241del
NM_020366.4(RPGRIP1):c.1216del (p.Leu406fs)
NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=)	rs1064797181
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)	rs1420750126
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter)	rs137853124
NM_020366.4(RPGRIP1):c.2367+23del	rs781728563
NM_020366.4(RPGRIP1):c.2368-2A>G	rs1064797182
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)	rs780667159
NM_020366.4(RPGRIP1):c.3120G>A (p.Trp1040Ter)	rs1555303320
NM_020366.4(RPGRIP1):c.3339+5G>A	rs1057518122
NM_020366.4(RPGRIP1):c.3565_3571del (p.Arg1189fs)	rs587783012
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)
NM_020366.4(RPGRIP1):c.3748+17dup	rs578107768
NM_020366.4(RPGRIP1):c.[2079C>G];[2212_2215+21del]

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