List of variants studied for Usher syndrome type 1 by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)	rs754391973	0.00001
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)	rs201866631	0.00001
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs)	rs782077721
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly)	rs869312181
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs)	rs1591467894
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)	rs397516326
NM_001142763.1:c.-189197_c.610-5166del
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)	rs727504301

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