List of variants reported as uncertain significance for Leber congenital amaurosis 1 by Cytogenetics and Genomics Laboratory, Medical University of South Carolina

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro)	rs1321779316	0.00056
NM_199355.4(ADAMTS18):c.3463C>T (p.Arg1155Trp)	rs143681049	0.00023
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_199355.4(ADAMTS18):c.3419G>T (p.Gly1140Val)	rs1567453873	0.00001

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