List of variants in gene REEP6 studied for retinitis pigmentosa 77

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

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_138393.4(REEP6):c.518-113C>T	rs2244794	0.44078
NM_138393.4(REEP6):c.518-52G>T	rs2244801	0.43855
NM_138393.4(REEP6):c.349-21A>G	rs2244686	0.39828
NM_138393.4(REEP6):c.348+28G>A	rs2277748	0.36084
NM_138393.4(REEP6):c.116-16C>T	rs12459408	0.27902
NM_138393.4(REEP6):c.518-29C>T	rs2292456	0.25032
NM_138393.4(REEP6):c.223G>A (p.Glu75Lys)	rs144942685	0.00009
NM_138393.4(REEP6):c.349-4G>T	rs756956302	0.00001
NM_001329556.3(REEP6):c.557dup (p.Val187fs)	rs1057519427
NM_001329556.3(REEP6):c.598+1G>A	rs751330788
NM_138393.4(REEP6):c.276C>A (p.Tyr92Ter)
NM_138393.4(REEP6):c.349-1G>A	rs2085005383
NM_138393.4(REEP6):c.383C>T (p.Pro128Leu)	rs1057519317
NM_138393.4(REEP6):c.404T>C (p.Leu135Pro)	rs1057519316
NM_138393.4(REEP6):c.448del (p.Ala150fs)	rs1057519341
NM_138393.4(REEP6):c.517+265GC[6]	rs34524945
NM_138393.4(REEP6):c.517+5G>T

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