List of variants reported as pathogenic for auditory system disorder by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 13

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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.167del (p.Leu56fs)	rs80338942	0.00058
NM_000441.2(SLC26A4):c.1001+1G>A	rs80338849	0.00029
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	rs111033260	0.00012
NM_016239.4(MYO15A):c.8714-1G>A	rs377015931	0.00006
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)	rs375290498	0.00005
NM_000441.2(SLC26A4):c.2089+1G>A	rs727503430	0.00003
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396	0.00002
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)	rs121913657
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer)	rs794729637
NM_016239.4(MYO15A):c.625G>T (p.Glu209Ter)	rs571594379

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