ClinVar Miner

List of variants in gene RHO reported by Ocular Genomics Institute, Massachusetts Eye and Ear

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Gene type:
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Total variants: 19
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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.178T>C (p.Tyr60His) rs771007146 0.00005
NM_000539.3(RHO):c.53G>A (p.Gly18Asp) rs200946638 0.00003
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.185C>A (p.Thr62Asn) rs769464362 0.00001
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202
NM_000539.3(RHO):c.218A>G (p.Asn73Ser) rs779169631
NM_000539.3(RHO):c.302G>T (p.Gly101Val) rs759945007
NM_000539.3(RHO):c.404G>T (p.Arg135Leu) rs104893774
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.512C>T (p.Pro171Leu) rs2084776162
NM_000539.3(RHO):c.538C>A (p.Pro180Thr) rs1560046837
NM_000539.3(RHO):c.647T>A (p.Met216Lys) rs984572250
NM_000539.3(RHO):c.68C>A (p.Pro23His) rs104893768
NM_000539.3(RHO):c.755G>A (p.Arg252His) rs765438313
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del) rs121918590
NM_000539.3(RHO):c.895G>A (p.Ala299Thr) rs779665096
NM_000539.3(RHO):c.913A>G (p.Ile305Val) rs199701338

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