List of variants in gene RHO reported as pathogenic by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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: 27

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HGVS	dbSNP	gnomAD frequency
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.551A>G (p.Gln184Arg)	rs1402468701	0.00001
NM_000539.3(RHO):c.1021_1028del (p.Glu341fs)
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.1034T>G (p.Val345Gly)
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.266G>A (p.Gly89Asp)	rs104893772
NM_000539.3(RHO):c.269G>A (p.Gly90Asp)	rs104893790
NM_000539.3(RHO):c.337G>A (p.Glu113Lys)	rs2108749341
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.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.541G>A (p.Glu181Lys)	rs775557680
NM_000539.3(RHO):c.568G>A (p.Asp190Asn)	rs104893779
NM_000539.3(RHO):c.647T>A (p.Met216Lys)	rs984572250
NM_000539.3(RHO):c.68C>T (p.Pro23Leu)	rs104893768
NM_000539.3(RHO):c.71T>C (p.Phe24Ser)
NM_000539.3(RHO):c.83A>G (p.Gln28Arg)	rs1553780837
NM_000539.3(RHO):c.888G>C (p.Lys296Asn)	rs2084793009
NM_000539.3(RHO):c.937-1G>T
NM_000539.3(RHO):c.999dup (p.Ser334fs)

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