ClinVar Miner

List of variants reported as likely pathogenic for Deafness, autosomal recessive 77

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Total variants: 12
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NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs) rs1598914701
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter)
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys)
NM_001384474.1(LOXHD1):c.6071del (p.Thr2024fs)
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu)
NM_144612.6(LOXHD1):c.3061+1G>A rs537227442
NM_144612.6(LOXHD1):c.4096-1G>C rs749861944
NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144612.6(LOXHD1):c.4714C>T rs75949023
NM_144612.6(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375

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