ClinVar Miner

List of variants in gene RHO reported as uncertain significance by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.439C>T (p.Arg147Cys) rs200165530 0.00040
NM_000539.3(RHO):c.173C>T (p.Thr58Met) rs28933394 0.00008
NM_000539.3(RHO):c.361G>A (p.Gly121Ser) rs771637224 0.00003
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202
NM_000539.3(RHO):c.211C>T (p.Pro71Ser) rs1305158106
NM_000539.3(RHO):c.571T>G (p.Tyr191Asp) rs1578280614
NM_000539.3(RHO):c.66C>A (p.Ser22Arg) rs749567084
NM_000539.3(RHO):c.755G>C (p.Arg252Pro) rs765438313
NM_000539.3(RHO):c.766_777del (p.Ile256_Ile259del) rs2084789093
NM_000539.3(RHO):c.778_789del (p.Ala260_Ile263del) rs2084789357
NM_000539.3(RHO):c.806C>A (p.Ala269Asp) rs2084789658

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