ClinVar Miner

List of variants studied for eye degenerative disorder by DBGen Ocular Genomics

Included ClinVar conditions (119):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_012338.4(TSPAN12):c.301dup (p.Leu101fs) rs1407226293 0.00001
NM_130837.3(OPA1):c.301C>T (p.Arg101Cys) rs371943668 0.00001
NM_000330.4(RS1):c.409C>T (p.Leu137Phe) rs1927700931
NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs) rs2136521006
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter) rs2136508909
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) rs80358303
NM_012338.4(TSPAN12):c.502T>C (p.Trp168Arg)
NM_130837.3(OPA1):c.2293A>T (p.Lys765Ter) rs772382178

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