List of variants reported as likely pathogenic for perceptual disorders by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.1761-2A>G	rs754765164	0.00001
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)	rs61750147	0.00001
NM_000330.4(RS1):c.52+3A>G	rs2147209764
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)	rs61749450
NM_001142800.2(EYS):c.9368del (p.Asn3123fs)	rs1768339358
NM_006269.2(RP1):c.2092_2093delinsTCTT (p.Lys698fs)	rs2129316420
NM_033629.6(TREX1):c.814del (p.Asp272fs)	rs2107265386
NM_178857.6(RP1L1):c.2380G>T (p.Glu794Ter)	rs267601690

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