List of variants reported as pathogenic for auditory system disorder by GeneReviews

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_004700.4(KCNQ4):c.725G>A (p.Trp242Ter)	rs1648206560	0.00001
NC_000013.11:g.20365207_20496559del
NC_012920.1:m.1555A>G	rs267606617
NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg)	rs137853969
NM_194248.1:c.1912-2C>T
NM_194248.1:c.2295_2297delG
NM_194248.1:c.3704-3720delACCGCTCGGCCCCCAG
NM_194248.1:c.5860_5862delATC
NM_194248.1:c.766-2T>A
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs)	rs1443739332
Single allele
c.667_684del(664_681del)
del(GJB6-D13S1830)

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