ClinVar Miner

List of variants in gene RPGRIP1 reported as pathogenic for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.3(RPGRIP1):c.1892A>T (p.His631Leu) rs535922252
NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.3(RPGRIP1):c.2017C>T (p.Gln673Ter) rs1566341956
NM_020366.3(RPGRIP1):c.2302C>T (p.Arg768Ter)
NM_020366.3(RPGRIP1):c.2356C>T (p.Gln786Ter) rs587783019
NM_020366.3(RPGRIP1):c.2440C>T (p.Arg814Ter)
NM_020366.3(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.3(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354
NM_020366.3(RPGRIP1):c.3339+5G>A rs1057518122
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020366.3(RPGRIP1):c.3467_3468insCT (p.Thr1156_Glu1157insTer) rs776698746
NM_020366.3(RPGRIP1):c.3565_3571del (p.Arg1189fs) rs587783012
NM_020366.3(RPGRIP1):c.3617+1G>A
NM_020366.3(RPGRIP1):c.564A>G (p.Glu188=) rs574462207
NM_020366.3(RPGRIP1):c.799C>T (p.Arg267Ter)
NM_020366.3(RPGRIP1):c.801-25_843del rs1566674809
NM_020366.3(RPGRIP1):c.832C>T (p.Arg278Ter) rs587783018
RPGRIP1, 1-BP DEL, ASP1176
RPGRIP1, 1-BP DEL, LYS342
RPGRIP1, 1-BP INS, GLN893
RPGRIP1, 3-BP DEL, 3835GAG

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