List of variants reported as uncertain significance for X-linked mixed hearing loss with perilymphatic gusher

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000307.5(POU3F4):c.*192T>C	rs775863791	0.00075
NM_004004.6(GJB2):c.*115A>C	rs557953001	0.00058
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)	rs111033194	0.00015
NM_000307.5(POU3F4):c.585A>G (p.Glu195=)	rs202020213	0.00011
NM_004004.6(GJB2):c.-1G>A	rs768338285	0.00006
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu)	rs374572413	0.00005
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)	rs765172751	0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)	rs375599392	0.00004
NM_004004.6(GJB2):c.88A>G (p.Ile30Val)	rs374625633	0.00004
NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu)	rs770657036	0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)	rs28931592	0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)	rs397516878	0.00003
NM_000307.5(POU3F4):c.*297T>C	rs1297004201	0.00002
NM_000307.5(POU3F4):c.442G>C (p.Gly148Arg)	rs773169987	0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly)	rs773846324	0.00002
NM_000307.5(POU3F4):c.914C>T (p.Ala305Val)	rs1354177998	0.00001
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe)	rs750540794	0.00001
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg)	rs751440971	0.00001
NM_004004.6(GJB2):c.14C>T (p.Thr5Met)	rs781085903	0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	rs727504309	0.00001
NM_004004.6(GJB2):c.512C>T (p.Ala171Val)	rs1555341850	0.00001
NM_000307.5(POU3F4):c.*141T>C	rs368408951
NM_000307.5(POU3F4):c.*41C>A	rs1057516008
NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe)	rs1178113212
NM_000307.5(POU3F4):c.845G>A (p.Arg282Gln)
NM_000307.5(POU3F4):c.854T>C (p.Ile285Thr)
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys)	rs571454176
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg)	rs878853241

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