List of variants reported as pathogenic for perceptual disorders by Genetic Services Laboratory, University of Chicago

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Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00966
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00354
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945	0.00066
NM_004004.6(GJB2):c.167del (p.Leu56fs)	rs80338942	0.00058
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661	0.00047
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	rs80338948	0.00021
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	rs111033294	0.00016
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	rs104894398	0.00013
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	rs104894408	0.00009
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)	rs104894407	0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met)	rs111033299	0.00008
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)	rs587783644	0.00004
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	rs143343083	0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	rs773528125	0.00003
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396	0.00002
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	rs111033295	0.00001
NC_000013.11:g.20188982_20188990delinsGAATGTCATGAACACTG	rs111033335
NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr)	rs587783645
NM_004004.6(GJB2):c.235del (p.Leu79fs)	rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	rs104894409
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	rs111033253
NM_004004.6(GJB2):c.314_329del (p.Lys105fs)	rs797045596
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	rs80338950
NM_004004.6(GJB2):c.632_633del (p.Cys211fs)	rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	rs587783647
NM_004523.4(KIF11):c.-1_2delinsAA (p.Met1fs)	rs797045649
NM_004523.4(KIF11):c.112del (p.His38fs)	rs1554859309
NM_004523.4(KIF11):c.2160+1G>T	rs1554862218
NM_004523.4(KIF11):c.2548-1G>A	rs1554863016
NM_004523.4(KIF11):c.436A>T (p.Lys146Ter)	rs797045650
NM_004523.4(KIF11):c.699-7_705del	rs797045651
NM_004523.4(KIF11):c.868C>T (p.Gln290Ter)	rs1554859966
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs)	rs780170125

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