List of variants reported as pathogenic for Usher syndrome type 1 by 3billion

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)	rs199606180	0.00002
NM_000260.4(MYO7A):c.2283-1G>T	rs397516295
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)	rs782281371
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)	rs1555095933
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del)	rs111033232
NM_000260.4(MYO7A):c.6377del (p.Pro2126fs)	rs2135798786

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