ClinVar Miner

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

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Gene type:
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Total variants: 66
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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.759G>T (p.Met253Ile) rs756658659 0.00004
NM_000539.3(RHO):c.361G>A (p.Gly121Ser) rs771637224 0.00003
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.325G>A (p.Gly109Arg) rs1415160298 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_000539.3(RHO):c.730C>T (p.Gln244Ter) rs1273934052 0.00001
NM_000539.3(RHO):c.936+1G>T rs776014770 0.00001
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202
NM_000539.3(RHO):c.1028G>A (p.Ser343Asn) rs2084801470
NM_000539.3(RHO):c.1030C>T (p.Gln344Ter) rs104893778
NM_000539.3(RHO):c.1033G>A (p.Val345Met) rs104893795
NM_000539.3(RHO):c.1040del (p.Pro347fs) rs2084801618
NM_000539.3(RHO):c.116T>G (p.Met39Arg) rs2084756915
NM_000539.3(RHO):c.165C>A (p.Asn55Lys) rs1312862210
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) rs527236101
NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del) rs2084757679
NM_000539.3(RHO):c.211C>T (p.Pro71Ser) rs1305158106
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) rs104893772
NM_000539.3(RHO):c.284T>C (p.Leu95Pro) rs2084758666
NM_000539.3(RHO):c.328T>C (p.Cys110Arg) rs1578278438
NM_000539.3(RHO):c.341G>A (p.Gly114Asp) rs104893788
NM_000539.3(RHO):c.362G>T (p.Gly121Val) rs2084774644
NM_000539.3(RHO):c.392T>C (p.Leu131Pro) rs1553781140
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.448G>A (p.Glu150Lys) rs104893791
NM_000539.3(RHO):c.44A>G (p.Asn15Ser) rs104893786
NM_000539.3(RHO):c.45T>G (p.Asn15Lys) rs1578278088
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.50C>A (p.Thr17Lys) rs104893769
NM_000539.3(RHO):c.512C>A (p.Pro171Gln) rs2084776162
NM_000539.3(RHO):c.512C>T (p.Pro171Leu) rs2084776162
NM_000539.3(RHO):c.527C>T (p.Ser176Phe) rs2084776365
NM_000539.3(RHO):c.532T>C (p.Tyr178His) rs2084785435
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) rs104893776
NM_000539.3(RHO):c.538C>A (p.Pro180Thr) rs1560046837
NM_000539.3(RHO):c.539C>T (p.Pro180Leu) rs2084785483
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.545_546delinsAA (p.Gly182Glu) rs2084785588
NM_000539.3(RHO):c.553T>C (p.Cys185Arg) rs1236550448
NM_000539.3(RHO):c.559T>C (p.Cys187Arg) rs2084785760
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr) rs1578280588
NM_000539.3(RHO):c.560G>T (p.Cys187Phe) rs1578280588
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000539.3(RHO):c.568G>A (p.Asp190Asn) rs104893779
NM_000539.3(RHO):c.571T>G (p.Tyr191Asp) rs1578280614
NM_000539.3(RHO):c.632A>C (p.His211Pro) rs28933993
NM_000539.3(RHO):c.647T>A (p.Met216Lys) rs984572250
NM_000539.3(RHO):c.66C>A (p.Ser22Arg) rs749567084
NM_000539.3(RHO):c.673C>T (p.Gln225Ter) rs752076372
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.800C>T (p.Pro267Leu) rs104893781
NM_000539.3(RHO):c.806C>A (p.Ala269Asp) rs2084789658
NM_000539.3(RHO):c.810C>A (p.Ser270Arg) rs768210562
NM_000539.3(RHO):c.886A>C (p.Lys296Gln) rs29001653
NM_000539.3(RHO):c.886A>G (p.Lys296Glu) rs29001653
NM_000539.3(RHO):c.888G>C (p.Lys296Asn) rs2084793009
NM_000539.3(RHO):c.929del (p.Asn310fs) rs2084793386
NM_000539.3(RHO):c.953_955del (p.Leu318_Thr319delinsPro) rs2084800683
NM_000539.3(RHO):c.977del (p.Asn326fs) rs2084800900

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