ClinVar Miner

List of variants in gene RHO reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.759G>T (p.Met253Ile) rs756658659 0.00004
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.892G>A (p.Ala298Thr) rs781237162 0.00001
NM_000539.3(RHO):c.260T>A (p.Val87Asp) rs104893771
NM_000539.3(RHO):c.269G>A (p.Gly90Asp) rs104893790
NM_000539.3(RHO):c.891C>G (p.Ser297Arg) rs142285818

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