List of variants in gene RHO studied for Pigmentary retinal dystrophy

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000539.3(RHO):c.-26A>G	rs7984	0.38071
NM_000539.3(RHO):c.696+4C>T	rs56340615	0.07633
NM_000539.3(RHO):c.759G>T (p.Met253Ile)	rs756658659	0.00004
NM_000539.3(RHO):c.551A>G (p.Gln184Arg)	rs1402468701	0.00001
NM_000539.3(RHO):c.892G>A (p.Ala298Thr)	rs781237162	0.00001
NM_000539.3(RHO):c.*43C>A	rs2071093
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.891C>G (p.Ser297Arg)	rs142285818

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