ClinVar Miner

List of variants reported as likely pathogenic for Deafness, autosomal recessive 2

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Total variants: 8
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HGVS dbSNP
NM_000260.4(MYO7A):c.1798-1G>T rs1555076948
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000260.4(MYO7A):c.6237+1G>A rs1338605788

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