List of variants studied for perceptual disorders by Department of Medical Genetics, College of Basic Medicine, Army Medical University

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_201548.5(CERKL):c.313C>T (p.Arg105Trp)	rs149078111	0.00370
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr)	rs557212203	0.00010
NM_004183.4(BEST1):c.313C>A (p.Arg105Ser)	rs281865273	0.00001
NM_201548.5(CERKL):c.239-2A>G	rs776886395	0.00001
NM_000322.5(PRPH2):c.799G>A (p.Val267Ile)
NM_001563.4(IMPG1):c.710_727del (p.Glu237_Leu242del)
NM_004183.4(BEST1):c.1242G>A (p.Trp414Ter)
NM_133497.4(KCNV2):c.1408G>C (p.Gly470Arg)
NM_133497.4(KCNV2):c.1500C>G (p.Tyr500Ter)
NM_201548.5(CERKL):c.1241C>G (p.Ala414Gly)
NM_201548.5(CERKL):c.1561_1564dup (p.Tyr522fs)

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