List of variants reported as pathogenic for perceptual disorders by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004249.4(RAB28):c.651T>G (p.Cys217Trp)	rs751163782	0.00001
NM_000350.3(ABCA4):c.6729+5_6729+19del	rs749526785
NM_000554.6(CRX):c.449C>G (p.Ser150Ter)	rs864309706
NM_000554.6(CRX):c.660del (p.Tyr221fs)	rs864309707
NM_000554.6(CRX):c.661del (p.Tyr221fs)	rs864309708
NM_001017979.3(RAB28):c.172+1G>C	rs875989778
NM_001039803.3(CDK20):c.564G>A (p.Trp188Ter)	rs1057519438
NM_001098.3(ACO2):c.2338_2339del (p.Gln780fs)	rs1114167284
NM_002114.4(HIVEP1):c.4089G>C (p.Met1363Ile)	rs776300630
NM_138615.3(DHX30):c.1685A>G (p.His562Arg)	rs1060499733

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