ClinVar Miner

List of variants studied for TSPAN12-related vitreoretinopathy by 3billion, Medical Genetics

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_012338.4(TSPAN12):c.277C>T (p.Leu93Phe)
NM_012338.4(TSPAN12):c.283T>C (p.Trp95Arg)
NM_012338.4(TSPAN12):c.313T>C (p.Cys105Arg)
NM_012338.4(TSPAN12):c.32G>A (p.Arg11His)
NM_012338.4(TSPAN12):c.345T>G (p.Tyr115Ter) rs1437503069
NM_012338.4(TSPAN12):c.476G>T (p.Cys159Phe) rs2116348690
NM_012338.4(TSPAN12):c.612+1G>T rs2116347776

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