List of variants studied for Hearing impairment by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00354
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	rs111033364	0.00012
NM_001145809.2(MYH14):c.5105T>C (p.Val1702Ala)	rs775130663	0.00004
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala)	rs56017519	0.00001
NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro)	rs1057518810	0.00001
NM_006005.3(WFS1):c.2437G>A (p.Val813Met)	rs756972444	0.00001
NM_000441.2(SLC26A4):c.1693T>G (p.Cys565Gly)	rs767255075
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)	rs104893746
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_005422.4(TECTA):c.4214G>A (p.Gly1405Asp)	rs1216336175
NM_014208.3(DSPP):c.-21T>C	rs1553903873
NM_194248.3(OTOF):c.2677-2A>G	rs1057518840
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter)	rs147321712

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