List of variants reported as pathogenic for autosomal recessive nonsyndromic hearing loss 22

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)	rs200988634	0.00927
NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser)	rs587777133	0.00004
NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp)	rs200656442	0.00001
NC_000016.10:g.(?_21624041)_(21730798_?)del
NC_000016.8:g.(21419562_?)_(?_21746863)del
NC_000016.9:g.(?_21623965)_(21730823_21968737)del
NC_000016.9:g.(?_21675288)_(21772051_?)del
NM_144672.4(OTOA):c.1025A>T (p.Asp342Val)	rs1060499804
NM_144672.4(OTOA):c.1320+2T>C	rs1567381218
NM_144672.4(OTOA):c.1537del (p.Ala513fs)
NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs)	rs2141700836
NM_144672.4(OTOA):c.1765del (p.Gln589fs)	rs775776282
NM_144672.4(OTOA):c.3292C>T (p.Gln1098Ter)
NM_144672.4(OTOA):c.806C>A (p.Ser269Ter)
NM_144672.4(OTOA):c.828del (p.Ser277fs)	rs751447996
NM_144672.4(OTOA):c.938del (p.Ser313fs)

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