List of variants in gene RHO reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000539.3(RHO):c.480C>A (p.Thr160=)	rs151063543	0.00180
NM_000539.3(RHO):c.969C>T (p.Cys323=)	rs142771862	0.00075
NM_000539.3(RHO):c.444C>T (p.Phe148=)	rs139502149	0.00031
NM_000539.3(RHO):c.519C>T (p.Ala173=)	rs149722668	0.00029
NM_000539.3(RHO):c.744G>A (p.Lys248=)	rs141185480	0.00010
NM_000539.3(RHO):c.1025C>T (p.Thr342Met)	rs183318466	0.00004
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	rs29001566	0.00001
NM_000539.3(RHO):c.464T>C (p.Met155Thr)	rs762290223	0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met)	rs104893769	0.00001
NM_000539.3(RHO):c.530+5T>C	rs759637818	0.00001
NM_000539.3(RHO):c.1028G>A (p.Ser343Asn)	rs2084801470
NM_000539.3(RHO):c.137T>G (p.Leu46Arg)	rs2084757073
NM_000539.3(RHO):c.180C>T (p.Tyr60=)	rs527236101
NM_000539.3(RHO):c.259G>T (p.Val87Phe)
NM_000539.3(RHO):c.266G>A (p.Gly89Asp)	rs104893772
NM_000539.3(RHO):c.392T>C (p.Leu131Pro)	rs1553781140
NM_000539.3(RHO):c.44A>T (p.Asn15Ile)	rs104893786
NM_000539.3(RHO):c.501C>G (p.Cys167Trp)	rs751280060
NM_000539.3(RHO):c.505G>C (p.Ala169Pro)
NM_000539.3(RHO):c.512C>A (p.Pro171Gln)	rs2084776162
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.541G>A (p.Glu181Lys)	rs775557680
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.659T>G (p.Phe220Cys)
NM_000539.3(RHO):c.755G>C (p.Arg252Pro)	rs765438313
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del)	rs1553781360
NM_000539.3(RHO):c.929A>G (p.Asn310Ser)	rs1553781406
NM_000539.3(RHO):c.979_980del (p.Pro327fs)	rs1578281625

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.