ClinVar Miner

List of variants in gene ABCA4 studied for Stargardt disease

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Total variants: 51
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HGVS dbSNP
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.[5512C>G;5882G>A]
NM_000350.2:c.(6816+1_6817-1)_(*1_?)del
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile) rs886044728
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412
NM_000350.3(ABCA4):c.2408del (p.Gly803fs)
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202
NM_000350.3(ABCA4):c.2680dup (p.Leu894fs)
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys)
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu)
NM_000350.3(ABCA4):c.3767_3768dup (p.Leu1257fs)
NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr)
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.4222del (p.Trp1408fs)
NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro)
NM_000350.3(ABCA4):c.4253+5G>A rs61750138
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys) rs762150575
NM_000350.3(ABCA4):c.4539+2066C>G
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.4679T>A (p.Ile1560Asn)
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.4842C>G (p.Asn1614Lys)
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg) rs61753034
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg) rs1553186896
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys)
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys)
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu)
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172

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