List of variants studied for perceptual disorders by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)	rs143797113	0.00046
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)	rs111033199	0.00019
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)	rs771336246	0.00011
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter)	rs202086317	0.00004
NM_000274.4(OAT):c.648+2T>C
NM_000307.5(POU3F4):c.119dup (p.Ser40fs)
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)	rs111033305
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256
NM_001142800.2(EYS):c.5644+1G>A
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs)	rs1055318738
NM_001256789.3(CACNA1F):c.2086-1G>C
NM_004999.4(MYO6):c.2416+2T>C
NM_006445.4(PRPF8):c.4367C>T (p.Thr1456Ile)
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)	rs1213286417
NM_145200.5(CABP4):c.625C>T (p.Arg209Ter)	rs779788706

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