List of variants in gene RHO reported as likely pathogenic by Dept Of Ophthalmology, Nagoya University

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000539.3(RHO):c.491C>T (p.Ala164Val)	rs104893793	0.00002
NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	rs28933394
NM_000539.3(RHO):c.263T>C (p.Leu88Pro)	rs1057521112
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	rs775557680
NM_000539.3(RHO):c.562G>A (p.Gly188Arg)	rs527236100
NM_000539.3(RHO):c.568G>A (p.Asp190Asn)	rs104893779
NM_000539.3(RHO):c.569A>G (p.Asp190Gly)	rs104893777
NM_000539.3(RHO):c.578C>A (p.Thr193Lys)
NM_000539.3(RHO):c.68C>T (p.Pro23Leu)	rs104893768
NM_000539.3(RHO):c.918T>A (p.Tyr306Ter)
NM_000539.3(RHO):c.937-2A>G	rs1578281565
NM_000539.3(RHO):c.948C>A (p.Cys316Ter)

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