List of variants reported as pathogenic for perceptual disorders by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_138691.3(TMC1):c.1763+3A>G	rs370898981	0.00056
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter)	rs774312182	0.00011
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)	rs111033271	0.00010
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)	rs373862340	0.00007
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)	rs752953889	0.00003
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)	rs398122960
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)	rs1569237077
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs)	rs1569236971
NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter)	rs1562263385
NM_006915.3(RP2):c.358C>T (p.Arg120Ter)	rs104894927
NM_022124.6(CDH23):c.4210-2A>G	rs557620034
NM_138691.3(TMC1):c.885-2A>C	rs1564554148
NM_153700.2(STRC):c.3499_4701+1del
NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter)	rs1558146243

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