ClinVar Miner

List of variants in gene RD3 studied for Leber congenital amaurosis 1

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001164688.2(RD3):c.-201_-200insC rs11463656 0.65004
NM_001164688.2(RD3):c.-293_-292dup rs1491560139 0.00028
NM_001164688.2(RD3):c.*1305del rs886045896
NM_001164688.2(RD3):c.*1307_*1308insCT rs142577368
NM_001164688.2(RD3):c.*1582del rs879756831
NM_001164688.2(RD3):c.*1582dup rs879756831
NM_001164688.2(RD3):c.*1583del rs775682217
NM_001164688.2(RD3):c.-166GA[1] rs886045903
NM_001164688.2(RD3):c.-292_-291del rs1553282313
NM_001164688.2(RD3):c.-302_-294delinsC rs886045910
NM_001164688.2(RD3):c.-304_-294delinsC rs886045911
NM_001164688.2(RD3):c.-336AC[16] rs34485370
NM_001164688.2(RD3):c.-336AC[19] rs34485370
NM_001164688.2(RD3):c.-336AC[20] rs34485370
NM_001164688.2(RD3):c.-336AC[21] rs34485370
NM_001164688.2(RD3):c.-336AC[23] rs34485370
NM_001164688.2(RD3):c.-336AC[24] rs34485370
NM_001164688.2(RD3):c.-337_-336del rs886045915
NM_001164688.2(RD3):c.-340_-337del rs886045916

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