List of variants reported as likely pathogenic for Usher syndrome by Baylor Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)	rs374963432	0.00015
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)	rs188376296	0.00009
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter)	rs979094623	0.00003
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)	rs1384677442	0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)	rs397517349	0.00001
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)	rs1317951509	0.00001
NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs)	rs1591286221
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter)	rs1555067598
NM_000260.4(MYO7A):c.2355del (p.Asn786fs)	rs1591369118
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg)	rs1296612982
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs)	rs1571947757
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter)	rs1571701072

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