List of variants in gene RHO reported as pathogenic by OMIM

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: 45

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HGVS	dbSNP	gnomAD frequency
NM_000539.3(RHO):c.133T>C (p.Phe45Leu)	rs104893770	0.00006
NM_000539.3(RHO):c.745G>T (p.Glu249Ter)	rs104893783	0.00004
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.50C>T (p.Thr17Met)	rs104893769	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.1039C>T (p.Pro347Ser)	rs29001637
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.151G>C (p.Gly51Arg)	rs104893792
NM_000539.3(RHO):c.158C>G (p.Pro53Arg)	rs28933395
NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	rs28933394
NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del)	rs2084757679
NM_000539.3(RHO):c.260T>A (p.Val87Asp)	rs104893771
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.281C>T (p.Thr94Ile)	rs104893796
NM_000539.3(RHO):c.316G>T (p.Gly106Trp)	rs104893773
NM_000539.3(RHO):c.329G>A (p.Cys110Tyr)	rs104893787
NM_000539.3(RHO):c.341G>A (p.Gly114Asp)	rs104893788
NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	rs104893775
NM_000539.3(RHO):c.404G>T (p.Arg135Leu)	rs104893774
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.482G>A (p.Trp161Ter)	rs869320618
NM_000539.3(RHO):c.491C>A (p.Ala164Glu)	rs104893793
NM_000539.3(RHO):c.511C>T (p.Pro171Ser)	rs104893794
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)	rs104893776
NM_000539.3(RHO):c.544G>A (p.Gly182Ser)	rs104893780
NM_000539.3(RHO):c.549dup (p.Gln184fs)	rs1560046845
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.620T>G (p.Met207Arg)	rs104893782
NM_000539.3(RHO):c.632A>C (p.His211Pro)	rs28933993
NM_000539.3(RHO):c.67C>G (p.Pro23Ala)	rs104893797
NM_000539.3(RHO):c.68C>A (p.Pro23His)	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.800C>T (p.Pro267Leu)	rs104893781
NM_000539.3(RHO):c.875C>A (p.Ala292Glu)	rs104893789
NM_000539.3(RHO):c.886A>G (p.Lys296Glu)	rs29001653

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