ClinVar Miner

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

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu) rs116448422 0.00567
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) rs199646135 0.00379
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00258
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00119
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705 0.00069
NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=) rs139074745 0.00058
NM_001039141.3(TRIOBP):c.4932C>T (p.Pro1644=) rs192500421 0.00016
NM_001039141.3(TRIOBP):c.5688-13G>C rs200079756 0.00009
NM_001039141.3(TRIOBP):c.6472+14_6472+15insC rs546389039

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