List of variants reported as pathogenic for autosomal recessive nonsyndromic hearing loss 28

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)	rs200045032	0.00054
NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter)	rs377748152	0.00016
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter)	rs118204026	0.00010
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)	rs776962899	0.00006
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter)	rs118204031	0.00003
NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter)	rs118204029	0.00002
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter)	rs118204030	0.00001
NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter)	rs1060499809
NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter)	rs118204027
NM_001039141.3(TRIOBP):c.1783C>T (p.Arg595Ter)	rs371412957
NM_001039141.3(TRIOBP):c.1861C>T (p.Arg621Ter)
NM_001039141.3(TRIOBP):c.2581C>T (p.Arg861Ter)
NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg)	rs549095193
NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs)	rs1601632909
NM_001039141.3(TRIOBP):c.3214dup (p.Arg1072fs)	rs1485334519
NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs)	rs768625959
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs)	rs771696726
NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter)	rs1569042693
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs)	rs1569042782
NM_001039141.3(TRIOBP):c.3672_3673del (p.Arg1225fs)	rs2145835560
NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter)	rs1569046250
NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter)	rs118204028

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