ClinVar Miner

List of variants in gene ABCA4 reported as uncertain significance for Stargardt Disease, Recessive

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_000350.2(ABCA4):c.1356+14dupG rs886046567
NM_000350.3(ABCA4):c.*147C>T rs773349580
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) rs376624031
NM_000350.3(ABCA4):c.1240-8G>C rs185225547
NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys) rs770439859
NM_000350.3(ABCA4):c.1356+6_1356+7insC rs886046568
NM_000350.3(ABCA4):c.1493A>G (p.Asp498Gly) rs147135304
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315
NM_000350.3(ABCA4):c.2278C>G (p.Leu760Val) rs886046566
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=) rs138246242
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=) rs886046565
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.3(ABCA4):c.331G>C (p.Glu111Gln) rs766512063
NM_000350.3(ABCA4):c.3586A>T (p.Thr1196Ser) rs370967816
NM_000350.3(ABCA4):c.3607+13C>T rs374630957
NM_000350.3(ABCA4):c.3670T>G (p.Cys1224Gly) rs762213896
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.4194C>T (p.Gly1398=) rs763857670
NM_000350.3(ABCA4):c.4510G>A (p.Glu1504Lys) rs190370456
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu) rs886046564
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=) rs774957381
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=) rs138831474
NM_000350.3(ABCA4):c.4749T>A (p.Leu1583=) rs754531924
NM_000350.3(ABCA4):c.4848+13T>C rs374196141
NM_000350.3(ABCA4):c.4945C>T (p.Pro1649Ser) rs886046563
NM_000350.3(ABCA4):c.5121C>A (p.Asn1707Lys) rs886046562
NM_000350.3(ABCA4):c.5197-4C>T rs758825834
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=) rs202199507
NM_000350.3(ABCA4):c.5460+6C>T rs886046561
NM_000350.3(ABCA4):c.5610C>A (p.Phe1870Leu) rs886046560
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332
NM_000350.3(ABCA4):c.5953C>T (p.Leu1985Phe) rs886046559
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met) rs202127235
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro) rs761867791
NM_000350.3(ABCA4):c.741C>T (p.Asn247=) rs372976742
NM_000350.3(ABCA4):c.791G>A (p.Arg264His) rs567985213

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.