ClinVar Miner

List of variants in gene MYO7A reported as pathogenic for Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1

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Total variants: 9
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NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283

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