List of variants studied for X-linked mixed hearing loss with perilymphatic gusher by Illumina Laboratory Services, Illumina

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		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser)	rs144417952	0.00110
NM_000307.5(POU3F4):c.*105C>T	rs777244703	0.00107
NM_000307.5(POU3F4):c.*192T>C	rs775863791	0.00075
NM_000307.5(POU3F4):c.753G>A (p.Leu251=)	rs779713849	0.00013
NM_000307.5(POU3F4):c.585A>G (p.Glu195=)	rs202020213	0.00011
NM_000307.5(POU3F4):c.*22C>G	rs201213510	0.00009
NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu)	rs770657036	0.00003
NM_000307.5(POU3F4):c.*297T>C	rs1297004201	0.00002
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

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