ClinVar Miner

List of variants in gene RHO reported as likely benign by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.530+20G>A rs375044079 0.00056
NM_000539.3(RHO):c.517G>A (p.Ala173Thr) rs139731264 0.00033
NM_000539.3(RHO):c.444C>T (p.Phe148=) rs139502149 0.00031
NM_000539.3(RHO):c.469G>A (p.Val157Ile) rs200207070 0.00030
NM_000539.3(RHO):c.919A>T (p.Ile307Phe) rs771322615 0.00026
NM_000539.3(RHO):c.630C>T (p.Val210=) rs371192803 0.00020
NM_000539.3(RHO):c.1019C>T (p.Thr340Met) rs148748781 0.00014
NM_000539.3(RHO):c.624C>T (p.Phe208=) rs113751838 0.00014
NM_000539.3(RHO):c.959C>A (p.Thr320Asn) rs138831590 0.00011
NM_000539.3(RHO):c.361+10G>A rs372128112 0.00010
NM_000539.3(RHO):c.744G>A (p.Lys248=) rs141185480 0.00010
NM_000539.3(RHO):c.998C>T (p.Ala333Val) rs760792843 0.00010
NM_000539.3(RHO):c.186C>T (p.Thr62=) rs367909246 0.00008
NM_000539.3(RHO):c.399C>A (p.Ile133=) rs372812523 0.00008
NM_000539.3(RHO):c.688G>A (p.Val230Ile) rs780188527 0.00008
NM_000539.3(RHO):c.777C>T (p.Ile259=) rs371853220 0.00008
NM_000539.3(RHO):c.309C>T (p.Phe103=) rs149615742 0.00007
NM_000539.3(RHO):c.321C>A (p.Pro107=) rs781266982 0.00007
NM_000539.3(RHO):c.408C>T (p.Tyr136=) rs200248198 0.00007
NM_000539.3(RHO):c.516C>T (p.Leu172=) rs779609930 0.00007
NM_000539.3(RHO):c.804C>T (p.Tyr268=) rs200826498 0.00007
NM_000539.3(RHO):c.144C>T (p.Ile48=) rs756454203 0.00006
NM_000539.3(RHO):c.697-19C>T rs373369517 0.00006
NM_000539.3(RHO):c.1020G>A (p.Thr340=) rs559747229 0.00005
NM_000539.3(RHO):c.315C>T (p.Phe105=) rs778173978 0.00005
NM_000539.3(RHO):c.697-11G>A rs367631575 0.00005
NM_000539.3(RHO):c.174G>A (p.Thr58=) rs112640710 0.00004
NM_000539.3(RHO):c.362-10T>C rs568571580 0.00004
NM_000539.3(RHO):c.504C>T (p.Ala168=) rs780682812 0.00004
NM_000539.3(RHO):c.696+20C>T rs373118114 0.00004
NM_000539.3(RHO):c.936+17G>T rs200076128 0.00004
NM_000539.3(RHO):c.937-10T>C rs750473517 0.00004
NM_000539.3(RHO):c.492G>A (p.Ala164=) rs1046717534 0.00003
NM_000539.3(RHO):c.576C>T (p.Tyr192=) rs1022242191 0.00003
NM_000539.3(RHO):c.123C>T (p.Ala41=) rs781550757 0.00002
NM_000539.3(RHO):c.51G>C (p.Thr17=) rs753585848 0.00002
NM_000539.3(RHO):c.633C>T (p.His211=) rs374685958 0.00002
NM_000539.3(RHO):c.876G>A (p.Ala292=) rs145004306 0.00002
NM_000539.3(RHO):c.1041G>A (p.Pro347=) rs779296525 0.00001
NM_000539.3(RHO):c.243G>A (p.Val81=) rs2084758349 0.00001
NM_000539.3(RHO):c.267T>C (p.Gly89=) rs762451457 0.00001
NM_000539.3(RHO):c.279C>T (p.Ser93=) rs773808406 0.00001
NM_000539.3(RHO):c.288C>T (p.Tyr96=) rs761338278 0.00001
NM_000539.3(RHO):c.362-17T>G rs746563423 0.00001
NM_000539.3(RHO):c.447G>A (p.Gly149=) rs1297879534 0.00001
NM_000539.3(RHO):c.48G>A (p.Ala16=) rs766112074 0.00001
NM_000539.3(RHO):c.495G>T (p.Leu165=) rs777283396 0.00001
NM_000539.3(RHO):c.530+14G>A rs1324015340 0.00001
NM_000539.3(RHO):c.540C>T (p.Pro180=) rs189018030 0.00001
NM_000539.3(RHO):c.600C>T (p.Asn200=) rs147005807 0.00001
NM_000539.3(RHO):c.642C>A (p.Ile214=) rs368534414 0.00001
NM_000539.3(RHO):c.732G>A (p.Gln244=) rs148222991 0.00001
NM_000539.3(RHO):c.933G>A (p.Lys311=) rs139566602 0.00001
NM_000539.3(RHO):c.937-9G>C rs374334512 0.00001
NM_000539.3(RHO):c.990C>T (p.Asp330=) rs548113513 0.00001
NM_000539.3(RHO):c.1008C>T (p.Thr336=)
NM_000539.3(RHO):c.1011G>A (p.Val337=)
NM_000539.3(RHO):c.1014C>A (p.Ser338=)
NM_000539.3(RHO):c.1014C>T (p.Ser338=)
NM_000539.3(RHO):c.1023G>A (p.Glu341=) rs2108750796
NM_000539.3(RHO):c.1026G>C (p.Thr342=)
NM_000539.3(RHO):c.102A>G (p.Pro34=)
NM_000539.3(RHO):c.1032G>A (p.Gln344=) rs749753555
NM_000539.3(RHO):c.180C>T (p.Tyr60=) rs527236101
NM_000539.3(RHO):c.237A>C (p.Leu79=) rs2108749273
NM_000539.3(RHO):c.240C>G (p.Ala80=) rs770941561
NM_000539.3(RHO):c.240C>T (p.Ala80=) rs770941561
NM_000539.3(RHO):c.27C>T (p.Phe9=)
NM_000539.3(RHO):c.285C>G (p.Leu95=) rs2108749298
NM_000539.3(RHO):c.318G>A (p.Gly106=)
NM_000539.3(RHO):c.361+11G>T
NM_000539.3(RHO):c.361+9C>T
NM_000539.3(RHO):c.362-11C>T rs957907715
NM_000539.3(RHO):c.362-20G>A
NM_000539.3(RHO):c.399C>T (p.Ile133=) rs372812523
NM_000539.3(RHO):c.426C>T (p.Pro142=) rs2108749946
NM_000539.3(RHO):c.432C>T (p.Ser144=)
NM_000539.3(RHO):c.486C>T (p.Val162=) rs765193154
NM_000539.3(RHO):c.51G>A (p.Thr17=)
NM_000539.3(RHO):c.530+17G>A
NM_000539.3(RHO):c.546C>T (p.Gly182=)
NM_000539.3(RHO):c.558G>T (p.Ser186=) rs145549270
NM_000539.3(RHO):c.579G>A (p.Thr193=) rs755674549
NM_000539.3(RHO):c.585G>A (p.Lys195=)
NM_000539.3(RHO):c.594C>G (p.Val198=)
NM_000539.3(RHO):c.66C>T (p.Ser22=)
NM_000539.3(RHO):c.678C>T (p.Leu226=)
NM_000539.3(RHO):c.687C>T (p.Thr229=)
NM_000539.3(RHO):c.696+10G>A rs372570611
NM_000539.3(RHO):c.696+10G>C rs372570611
NM_000539.3(RHO):c.696+12G>A rs55915536
NM_000539.3(RHO):c.696+12G>C
NM_000539.3(RHO):c.696+14G>C
NM_000539.3(RHO):c.696+15G>A
NM_000539.3(RHO):c.696+19G>A rs369198420
NM_000539.3(RHO):c.696+7G>T rs1256841395
NM_000539.3(RHO):c.696+9C>G rs368352202
NM_000539.3(RHO):c.696+9C>T rs368352202
NM_000539.3(RHO):c.697-19C>G
NM_000539.3(RHO):c.699C>G (p.Ala233=)
NM_000539.3(RHO):c.810C>T (p.Ser270=)
NM_000539.3(RHO):c.816A>T (p.Ala272=)
NM_000539.3(RHO):c.846C>T (p.Asn282=)
NM_000539.3(RHO):c.855C>T (p.Pro285=) rs2084792732
NM_000539.3(RHO):c.876G>C (p.Ala292=) rs145004306
NM_000539.3(RHO):c.888G>A (p.Lys296=)
NM_000539.3(RHO):c.894C>T (p.Ala298=)
NM_000539.3(RHO):c.930C>T (p.Asn310=) rs998172502
NM_000539.3(RHO):c.936+11C>T
NM_000539.3(RHO):c.937-6T>A rs543521798
NM_000539.3(RHO):c.937-9G>A rs374334512
NM_000539.3(RHO):c.9C>T (p.Gly3=) rs2108749120

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