ClinVar Miner

List of variants studied for Leber congenital amaurosis by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314 0.00003
NM_020366.4(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs) rs1468976582 0.00001
NM_003322.6(TULP1):c.1113-1G>T
NM_003322.6(TULP1):c.1113-9_1113delinsCATC rs2150924300
NM_020366.4(RPGRIP1):c.1468-263G>C rs1594202505
NM_020366.4(RPGRIP1):c.1611+27G>A rs1594203796
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.3238+1G>A rs1325103400
NM_020366.4(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.4(RPGRIP1):c.895_896del (p.Glu299fs) rs1594180177
NM_025114.4(CEP290):c.4705-2A>C rs2137170380
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly) rs1594865341
NM_152443.3(RDH12):c.362T>C (p.Ile121Thr) rs1594865719
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_201253.3(CRB1):c.1147T>C (p.Cys383Arg) rs1571897130
NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs) rs62636270

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