ClinVar Miner

List of variants in gene RD3 reported as uncertain significance for Leber congenital amaurosis 1

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_001164688.1(RD3):c.-166_-165GA[1] rs886045903
NM_001164688.1(RD3):c.-336_-335AC[16] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[19] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[20] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[21] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[23] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[24] rs34485370
NM_183059.2(RD3):c.*1305del rs886045896
NM_183059.2(RD3):c.*1582del rs879756831
NM_183059.2(RD3):c.*1582dup rs879756831
NM_183059.2(RD3):c.*1583del rs775682217
NM_183059.2(RD3):c.-295_-294del rs1553282313
NM_183059.2(RD3):c.-296_-295dup rs1491560139
NM_183059.2(RD3):c.-305_-297delinsC rs886045910
NM_183059.2(RD3):c.-307_-297delinsC rs886045911
NM_183059.2(RD3):c.-340_-339del rs886045915
NM_183059.2(RD3):c.-343_-340del rs886045916

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