ClinVar Miner

List of variants reported as uncertain significance for Cone-Rod Dystrophy, Recessive by Illumina Laboratory Services, Illumina

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.*245C>T rs74574460 0.01466
NM_033100.4(CDHR1):c.*2017C>T rs74619906 0.01450
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005 0.00943
NM_033100.4(CDHR1):c.2041-15G>A rs61867367 0.00830
NM_001193300.2(SEMA4A):c.-254-12C>T rs75927380 0.00448
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_033100.4(CDHR1):c.*167A>T rs41309994 0.00135
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121
NM_033100.4(CDHR1):c.408C>T (p.Ile136=) rs148125234 0.00121
NM_033100.4(CDHR1):c.*1534A>G rs886047345 0.00068
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033 0.00041
NM_000350.3(ABCA4):c.1240-8G>C rs185225547 0.00038
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315 0.00037
NM_033100.4(CDHR1):c.*511G>A rs377102711 0.00025
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) rs376624031 0.00022
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=) rs138831474 0.00021
NM_000350.3(ABCA4):c.3607+13C>T rs374630957 0.00017
NM_000350.3(ABCA4):c.*147C>T rs773349580 0.00016
NM_000350.3(ABCA4):c.741C>T (p.Asn247=) rs372976742 0.00013
NM_003816.3(ADAM9):c.1013T>C (p.Val338Ala) rs201439643 0.00013
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701 0.00010
NM_177965.3(CFAP418):c.-22G>A rs368472866 0.00010
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met) rs202127235 0.00009
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=) rs138246242 0.00007
NM_000350.3(ABCA4):c.5197-4C>T rs758825834 0.00006
NM_000350.3(ABCA4):c.4848+13T>C rs374196141 0.00005
NM_000350.3(ABCA4):c.3586A>T (p.Thr1196Ser) rs370967816 0.00004
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=) rs202199507 0.00004
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332 0.00004
NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys) rs770439859 0.00003
NM_000350.3(ABCA4):c.1493A>G (p.Asp498Gly) rs147135304 0.00003
NM_000350.3(ABCA4):c.3670T>G (p.Cys1224Gly) rs762213896 0.00003
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=) rs886046565 0.00002
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=) rs763857670 0.00002
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924 0.00001
NM_000350.3(ABCA4):c.331G>C (p.Glu111Gln) rs766512063 0.00001
NM_000350.3(ABCA4):c.4510G>A (p.Glu1504Lys) rs190370456 0.00001
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=) rs774957381 0.00001
NM_000350.3(ABCA4):c.4945C>T (p.Pro1649Ser) rs886046563 0.00001
NM_022367.4(SEMA4A):c.1094C>T (p.Thr365Ile) rs768826705 0.00001
NM_000350.3(ABCA4):c.1356+14dup rs886046567
NM_000350.3(ABCA4):c.1356+6_1356+7insC rs886046568
NM_000350.3(ABCA4):c.2278C>G (p.Leu760Val) rs886046566
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.3947A>C (p.Asp1316Ala) rs746468013
NM_000350.3(ABCA4):c.3977C>G (p.Ala1326Gly) rs761989194
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu) rs886046564
NM_000350.3(ABCA4):c.4749T>A (p.Leu1583=) rs754531924
NM_000350.3(ABCA4):c.5121C>A (p.Asn1707Lys) rs886046562
NM_000350.3(ABCA4):c.5460+6C>T rs886046561
NM_000350.3(ABCA4):c.5610C>A (p.Phe1870Leu) rs886046560
NM_000350.3(ABCA4):c.5953C>T (p.Leu1985Phe) rs886046559
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro) rs761867791
NM_000350.3(ABCA4):c.791G>A (p.Arg264His) rs567985213
NM_003816.3(ADAM9):c.*611AG[1] rs1448479332
NM_003816.3(ADAM9):c.*700_*702del rs886062927
NM_006204.4(PDE6C):c.2208+13_2208+17del rs886047483
NM_020366.4(RPGRIP1):c.3748+17dup rs578107768
NM_033100.4(CDHR1):c.*1055C>T rs117975094
NM_033100.4(CDHR1):c.*1915C>A rs41291362
NM_033100.4(CDHR1):c.*2704_*2715delinsATTA rs886047350
NM_033100.4(CDHR1):c.*335dup rs886047332
NM_033100.4(CDHR1):c.*599_*602del rs752991304
NM_033100.4(CDHR1):c.152-12_152-11del rs767478332
NM_033100.4(CDHR1):c.159C>A (p.His53Gln) rs12781048
NM_033100.4(CDHR1):c.159C>T (p.His53=) rs12781048
NM_033100.4(CDHR1):c.2473C>A (p.Pro825Thr) rs201515900
NM_177965.4(CFAP418):c.*1623_*1624dup rs561198464

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