ClinVar Miner

List of variants reported as likely benign for Leber congenital amaurosis by Genome-Nilou Lab

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.2128+15A>C rs75691013 0.01643
NM_201253.3(CRB1):c.2677-8C>T rs73071678 0.00970
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926 0.00369
NM_020366.4(RPGRIP1):c.218+13C>G rs200225522 0.00279
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326 0.00183
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220 0.00127
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys) rs151092557 0.00122
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu) rs199590641 0.00073
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=) rs201838837 0.00053
NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=) rs200268506 0.00051
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_020366.4(RPGRIP1):c.1078-9C>A rs371312060 0.00042
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311 0.00029
NM_201253.3(CRB1):c.29T>C (p.Leu10Pro) rs201609001 0.00029
NM_201253.3(CRB1):c.2230C>A (p.Arg744=) rs150412614 0.00025
NM_201253.3(CRB1):c.866C>T (p.Thr289Met) rs62636263 0.00025
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019 0.00024
NM_201253.3(CRB1):c.1986A>G (p.Ser662=) rs115400822 0.00021
NM_020366.4(RPGRIP1):c.1236G>A (p.Gln412=) rs140904308 0.00014
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212 0.00014
NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val) rs371762530 0.00011
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=) rs188318743 0.00010
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=) rs62636284 0.00010
NM_201253.3(CRB1):c.1305A>T (p.Gly435=) rs34813822 0.00009
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala) rs533227950 0.00007
NM_201253.3(CRB1):c.3534C>T (p.Ile1178=) rs753331276 0.00005
NM_201253.3(CRB1):c.1014C>A (p.Ile338=) rs771549675 0.00004
NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=) rs184853466 0.00002
NM_020366.4(RPGRIP1):c.3239-14C>T rs542859849 0.00001
NM_201253.3(CRB1):c.1206T>C (p.Ser402=) rs373229699 0.00001
NM_201253.3(CRB1):c.1995T>C (p.Asn665=) rs774597710 0.00001
NM_201253.3(CRB1):c.2715G>A (p.Arg905=) rs534108312 0.00001
NM_201253.3(CRB1):c.2823G>A (p.Pro941=) rs62645757 0.00001
NM_201253.3(CRB1):c.4074C>T (p.Ile1358=) rs753097155 0.00001
NM_020366.4(RPGRIP1):c.3448G>T (p.Asp1150Tyr) rs144704092
NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp) rs188660364
NM_201253.3(CRB1):c.2843-3dup rs776525385
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869
NM_201253.3(CRB1):c.579T>C (p.Asp193=) rs1382054822

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