List of variants in gene USH2A studied for Leber congenital amaurosis

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP
NM_007123.5(USH2A):c.2135del (p.Asn711_Ser712insTer)	rs1238314101
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe)	rs527236126
NM_206933.3(USH2A):c.14473C>T (p.His4825Tyr)	rs1158010100
NM_206933.3(USH2A):c.1961T>C (p.Leu654Pro)	rs1321779316
NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala)	rs587783023
NM_206933.3(USH2A):c.4758+3A>G	rs117798425
NM_206933.3(USH2A):c.7061G>A (p.Arg2354His)	rs201386640

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