ClinVar Miner

List of variants in gene RHO reported as likely pathogenic for blindness (disorder)

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.281C>T (p.Thr94Ile) rs104893796
NM_000539.3(RHO):c.328T>C (p.Cys110Arg) rs1578278438
NM_000539.3(RHO):c.362G>T (p.Gly121Val) rs2084774644
NM_000539.3(RHO):c.647T>A (p.Met216Lys) rs984572250

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