List of variants studied for Leber congenital amaurosis by Cytogenetics and Genomics Laboratory,Medical University of South Carolina

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Total variants: 13

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HGVS	dbSNP
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)	rs62642583
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	rs1420672586
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)	rs1429137932
NM_000329.3(RPE65):c.361dup (p.Ser121fs)	rs121918844
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)	rs1191496583
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)	rs192907397
NM_007123.5(USH2A):c.2135del (p.Asn711_Ser712insTer)	rs1238314101
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)	rs116733939
NM_199355.4(ADAMTS18):c.3419G>T (p.Gly1140Val)	rs1567453873
NM_199355.4(ADAMTS18):c.3463C>T (p.Arg1155Trp)	rs143681049
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.7061G>A (p.Arg2354His)	rs201386640

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