List of variants reported as pathogenic for Usher syndrome type 1 by Sharon lab, Hadassah-Hebrew University Medical Center

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	rs111033260	0.00012
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)	rs41298133	0.00004
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)	rs782539587	0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)	rs750027965	0.00002
NM_000260.4(MYO7A):c.2187+1G>A	rs111033290	0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)	rs376535635	0.00001
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)	rs878864531	0.00001
NM_153676.4(USH1C):c.497-2del	rs1480243085	0.00001
NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs)	rs1591286671
NM_000260.4(MYO7A):c.2187+1G>T	rs111033290
NM_000260.4(MYO7A):c.2307del (p.Asn769fs)	rs1060499800
NM_000260.4(MYO7A):c.285+2T>G	rs782292032
NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs)	rs1591470904
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)	rs1060499801
NM_153676.4(USH1C):c.238dup (p.Arg80fs)	rs397515359
NM_173477.5(USH1G):c.205dup (p.Leu69fs)	rs1598584825

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