List of variants reported as likely pathogenic for Usher syndrome type 1 by Counsyl

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)	rs376764423	0.00002
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)	rs111033201	0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)	rs201892914	0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)	rs376535635	0.00001
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)	rs111033347
NM_000260.4(MYO7A):c.397dup (p.His133fs)	rs111033187

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