List of variants in gene RHO reported as likely 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: 22

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HGVS	dbSNP	gnomAD frequency
NM_000539.3(RHO):c.131T>C (p.Met44Thr)	rs774336493	0.00001
NM_000539.3(RHO):c.696+1G>C	rs749356883	0.00001
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys)	rs142322202
NM_000539.3(RHO):c.1034T>A (p.Val345Glu)	rs1578281706
NM_000539.3(RHO):c.232A>T (p.Asn78Tyr)	rs1248203737
NM_000539.3(RHO):c.251T>C (p.Leu84Pro)	rs2108749285
NM_000539.3(RHO):c.317G>C (p.Gly106Ala)	rs1578278417
NM_000539.3(RHO):c.330C>G (p.Cys110Trp)
NM_000539.3(RHO):c.361+1G>A
NM_000539.3(RHO):c.380C>T (p.Ser127Phe)	rs2108749921
NM_000539.3(RHO):c.392T>G (p.Leu131Arg)
NM_000539.3(RHO):c.45T>A (p.Asn15Lys)	rs1578278088
NM_000539.3(RHO):c.481T>C (p.Trp161Arg)	rs2108749979
NM_000539.3(RHO):c.50C>A (p.Thr17Lys)	rs104893769
NM_000539.3(RHO):c.530+1G>C	rs2108750013
NM_000539.3(RHO):c.532T>C (p.Tyr178His)	rs2084785435
NM_000539.3(RHO):c.539C>G (p.Pro180Arg)	rs2084785483
NM_000539.3(RHO):c.560G>C (p.Cys187Ser)	rs1578280588
NM_000539.3(RHO):c.560G>T (p.Cys187Phe)	rs1578280588
NM_000539.3(RHO):c.568G>C (p.Asp190His)	rs104893779
NM_000539.3(RHO):c.643C>G (p.Pro215Ala)	rs2108750367
NM_000539.3(RHO):c.677T>C (p.Leu226Pro)	rs2084786958

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