List of variants reported as likely pathogenic for auditory system disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00354
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)	rs776962899	0.00006
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)	rs569681869	0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)	rs533297350	0.00004
NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro)	rs1057518810	0.00001
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys)	rs1455568421	0.00001
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter)	rs763075073	0.00001
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg)	rs1223784415
NM_000441.2(SLC26A4):c.1693T>G (p.Cys565Gly)	rs767255075
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)	rs28934908
NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp)	rs1057518908
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)	rs1057518895
NM_015100.4(POGZ):c.402_409dup (p.His137fs)	rs1057518799
NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val)	rs745434198
NM_194248.3(OTOF):c.2677-2A>G	rs1057518840

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