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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	rs111033524	0.00008
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)	rs371947306	0.00003
NM_173477.5(USH1G):c.46C>G (p.Leu16Val)	rs876657419	0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)	rs1057519382	0.00002
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr)	rs1057519383
NP_005700.2(USH1C):p.Arg357Trp

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