List of variants in gene RHO reported as pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 108

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HGVS	dbSNP	gnomAD frequency
NM_000539.3(RHO):c.745G>T (p.Glu249Ter)	rs104893783	0.00004
NM_000539.3(RHO):c.646del (p.Pro215_Met216insTer)	rs777851867	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.538C>T (p.Pro180Ser)	rs1560046837	0.00001
NM_000539.3(RHO):c.551A>G (p.Gln184Arg)	rs1402468701	0.00001
NM_000539.3(RHO):c.936+1G>T	rs776014770	0.00001
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.1033G>C (p.Val345Leu)	rs104893795
NM_000539.3(RHO):c.1033G>T (p.Val345Leu)	rs104893795
NM_000539.3(RHO):c.1034T>C (p.Val345Ala)	rs1578281706
NM_000539.3(RHO):c.1039C>A (p.Pro347Thr)	rs29001637
NM_000539.3(RHO):c.1039C>G (p.Pro347Ala)
NM_000539.3(RHO):c.1040C>A (p.Pro347Gln)	rs29001566
NM_000539.3(RHO):c.1040C>G (p.Pro347Arg)	rs29001566
NM_000539.3(RHO):c.1045T>C (p.Ter349Gln)	rs2084801700
NM_000539.3(RHO):c.1045T>G (p.Ter349Glu)	rs2084801700
NM_000539.3(RHO):c.106C>T (p.Gln36Ter)	rs760515764
NM_000539.3(RHO):c.116T>G (p.Met39Arg)	rs2084756915
NM_000539.3(RHO):c.151G>C (p.Gly51Arg)	rs104893792
NM_000539.3(RHO):c.152G>T (p.Gly51Val)	rs149079952
NM_000539.3(RHO):c.158C>G (p.Pro53Arg)	rs28933395
NM_000539.3(RHO):c.165C>A (p.Asn55Lys)	rs1312862210
NM_000539.3(RHO):c.165C>G (p.Asn55Lys)	rs1312862210
NM_000539.3(RHO):c.172_173delinsTA (p.Thr58Ter)	rs2084757329
NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	rs28933394
NM_000539.3(RHO):c.176T>A (p.Leu59His)	rs2108749238
NM_000539.3(RHO):c.180C>G (p.Tyr60Ter)	rs527236101
NM_000539.3(RHO):c.190C>T (p.Gln64Ter)	rs2084757596
NM_000539.3(RHO):c.233A>T (p.Asn78Ile)
NM_000539.3(RHO):c.235del (p.Asn78_Leu79insTer)	rs1478248064
NM_000539.3(RHO):c.266G>A (p.Gly89Asp)	rs104893772
NM_000539.3(RHO):c.269G>A (p.Gly90Asp)	rs104893790
NM_000539.3(RHO):c.306C>G (p.Tyr102Ter)	rs2084758866
NM_000539.3(RHO):c.316G>C (p.Gly106Arg)	rs104893773
NM_000539.3(RHO):c.316G>T (p.Gly106Trp)	rs104893773
NM_000539.3(RHO):c.328T>C (p.Cys110Arg)	rs1578278438
NM_000539.3(RHO):c.329G>A (p.Cys110Tyr)	rs104893787
NM_000539.3(RHO):c.329G>T (p.Cys110Phe)
NM_000539.3(RHO):c.337G>A (p.Glu113Lys)	rs2108749341
NM_000539.3(RHO):c.341G>A (p.Gly114Asp)	rs104893788
NM_000539.3(RHO):c.341G>T (p.Gly114Val)	rs104893788
NM_000539.3(RHO):c.359del (p.Gly120fs)	rs1057518210
NM_000539.3(RHO):c.364G>T (p.Glu122Ter)
NM_000539.3(RHO):c.36del (p.Phe13fs)	rs1172673857
NM_000539.3(RHO):c.374T>G (p.Leu125Arg)
NM_000539.3(RHO):c.392T>C (p.Leu131Pro)	rs1553781140
NM_000539.3(RHO):c.403C>G (p.Arg135Gly)	rs104893775
NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	rs104893775
NM_000539.3(RHO):c.404G>C (p.Arg135Pro)	rs104893774
NM_000539.3(RHO):c.404G>T (p.Arg135Leu)	rs104893774
NM_000539.3(RHO):c.404_405delinsTT (p.Arg135Leu)	rs886041233
NM_000539.3(RHO):c.408C>A (p.Tyr136Ter)	rs200248198
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.482G>A (p.Trp161Ter)	rs869320618
NM_000539.3(RHO):c.491C>A (p.Ala164Glu)	rs104893793
NM_000539.3(RHO):c.509C>G (p.Pro170Arg)	rs1553781176
NM_000539.3(RHO):c.511C>T (p.Pro171Ser)	rs104893794
NM_000539.3(RHO):c.512C>A (p.Pro171Gln)	rs2084776162
NM_000539.3(RHO):c.512C>G (p.Pro171Arg)	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.531-2A>G
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)	rs104893776
NM_000539.3(RHO):c.538C>G (p.Pro180Ala)	rs1560046837
NM_000539.3(RHO):c.539C>T (p.Pro180Leu)	rs2084785483
NM_000539.3(RHO):c.540del (p.Glu181fs)	rs1271669044
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	rs775557680
NM_000539.3(RHO):c.544G>A (p.Gly182Ser)	rs104893780
NM_000539.3(RHO):c.545G>A (p.Gly182Asp)	rs2084785574
NM_000539.3(RHO):c.545G>T (p.Gly182Val)	rs2084785574
NM_000539.3(RHO):c.553T>C (p.Cys185Arg)	rs1236550448
NM_000539.3(RHO):c.556T>C (p.Ser186Pro)
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr)	rs1578280588
NM_000539.3(RHO):c.562G>A (p.Gly188Arg)	rs527236100
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.568G>T (p.Asp190Tyr)	rs104893779
NM_000539.3(RHO):c.569A>G (p.Asp190Gly)	rs104893777
NM_000539.3(RHO):c.570C>G (p.Asp190Glu)	rs2084785890
NM_000539.3(RHO):c.632A>G (p.His211Arg)	rs28933993
NM_000539.3(RHO):c.644C>T (p.Pro215Leu)	rs2084786704
NM_000539.3(RHO):c.647T>A (p.Met216Lys)	rs984572250
NM_000539.3(RHO):c.647T>G (p.Met216Arg)	rs984572250
NM_000539.3(RHO):c.68C>A (p.Pro23His)	rs104893768
NM_000539.3(RHO):c.68C>T (p.Pro23Leu)	rs104893768
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del)	rs1553781360
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del)	rs121918590
NM_000539.3(RHO):c.799C>A (p.Pro267Thr)	rs2084789550
NM_000539.3(RHO):c.800C>T (p.Pro267Leu)	rs104893781
NM_000539.3(RHO):c.808A>C (p.Ser270Arg)	rs2084789677
NM_000539.3(RHO):c.810C>A (p.Ser270Arg)	rs768210562
NM_000539.3(RHO):c.83A>G (p.Gln28Arg)	rs1553780837
NM_000539.3(RHO):c.84G>T (p.Gln28His)	rs2108749184
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.889A>C (p.Ser297Arg)
NM_000539.3(RHO):c.891C>G (p.Ser297Arg)	rs142285818
NM_000539.3(RHO):c.934C>T (p.Gln312Ter)	rs1578281136
NM_000539.3(RHO):c.937-1G>A
NM_000539.3(RHO):c.937-1G>T
NM_000539.3(RHO):c.937-2A>G	rs1578281565

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