ClinVar Miner

List of variants reported as likely pathogenic for Deafness, autosomal recessive 28

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Total variants: 4
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HGVS dbSNP
NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter) rs1569034190
NM_001039141.3(TRIOBP):c.3143_3144AG[1] (p.Glu1048_Ser1049insTer) rs1555896285
NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser) rs1569040134
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp) rs1554065887

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