List of variants in gene USH2A studied for Leber congenital amaurosis

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro)	rs1321779316	0.00056
NM_206933.4(USH2A):c.4758+3A>G	rs117798425	0.00056
NM_206933.4(USH2A):c.14473C>T (p.His4825Tyr)	rs1158010100	0.00007
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)	rs201386640	0.00007
NM_206933.4(USH2A):c.2135del (p.Asn711_Ser712insTer)	rs1238314101	0.00004
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)	rs754768875	0.00003
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)	rs527236126

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