List of variants in gene NR2E3 reported as pathogenic for Retinitis pigmentosa

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_014249.4(NR2E3):c.119-2A>C	rs2723341	0.00038
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)	rs104894492	0.00003
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)	rs121912631	0.00001
NM_014249.4(NR2E3):c.563C>G (p.Pro188Arg)	rs2054189787	0.00001
NM_014249.4(NR2E3):c.1038G>C (p.Gln346His)	rs1595957521
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del)	rs1555454566
NM_014249.4(NR2E3):c.406G>T (p.Glu136Ter)	rs1257334132
NM_014249.4(NR2E3):c.994G>C (p.Glu332Gln)	rs2054205040

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