List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 79

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter)	rs267607135	0.00001
NM_001128228.3(TPRN):c.1427del (p.Pro476fs)	rs387906219
NM_001128228.3(TPRN):c.1530del (p.Thr511fs)	rs387906222
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs)	rs387906221
NM_001128228.3(TPRN):c.227_237dup (p.Leu80fs)	rs387906220
NM_001128228.3(TPRN):c.301G>T (p.Glu101Ter)
NM_001128228.3(TPRN):c.53G>A (p.Trp18Ter)	rs1564386891
NM_001128228.3(TPRN):c.943dup (p.Leu315fs)

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