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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
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_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_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)	rs570745701	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.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.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.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.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

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