ClinVar Miner

List of variants in gene ABCA4 reported by Institute of Medical Molecular Genetics, University of Zurich

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu) rs375184282 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412 0.00004
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029 0.00003
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.2932G>A (p.Gly978Ser) rs61749452 0.00002
NM_000350.3(ABCA4):c.184C>T (p.Pro62Ser) rs1355238974 0.00001
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000350.3(ABCA4):c.2160+1G>T rs61749427 0.00001
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr) rs61749428 0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829 0.00001
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs) rs1005271380 0.00001
NM_000350.3(ABCA4):c.3523-1G>A rs766239144 0.00001
NM_000350.3(ABCA4):c.4352+1G>A rs200967229 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6122G>A (p.Gly2041Asp) rs1462350577 0.00001
NM_000350.3(ABCA4):c.6282+1G>C rs770453727 0.00001
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.2:c.(2918+765_2918+775)_(3328+618_3328+662)del
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) rs886044720
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs) rs1553192715
NM_000350.3(ABCA4):c.1742C>A (p.Thr581Asn) rs1661175744
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys) rs1557787473
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter) rs865990202
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs) rs61749422
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala) rs1368508052
NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro) rs772663974
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3323del (p.Arg1108fs) rs1660527879
NM_000350.3(ABCA4):c.428del (p.Pro143fs) rs1662504407
NM_000350.3(ABCA4):c.4383G>C (p.Trp1461Cys) rs1347261858
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.4609del (p.Thr1537fs) rs1659998657
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter) rs1557767754
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg) rs374015407
NM_000350.3(ABCA4):c.5377G>A (p.Val1793Met) rs1659672463
NM_000350.3(ABCA4):c.5461-6T>C rs1659543067
NM_000350.3(ABCA4):c.5690_5704del (p.Gln1897_Phe1901del) rs1659522195
NM_000350.3(ABCA4):c.5691G>T (p.Gln1897His) rs771092150
NM_000350.3(ABCA4):c.571-2A>T rs61748534
NM_000350.3(ABCA4):c.5762_5763del (p.Val1921fs) rs1659469884
NM_000350.3(ABCA4):c.5924G>T (p.Gly1975Val) rs1659429594
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg) rs752147871
NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter) rs770272033
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6323_6331delinsGGC (p.Met2108_Asn2111delinsArgHis) rs1659159979
NM_000350.3(ABCA4):c.6428T>A (p.Met2143Lys) rs1659153516
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.6731T>A (p.Val2244Glu) rs1658995249
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser) rs149780335
NM_000350.3(ABCA4):c.727_728dup (p.Tyr245fs) rs1662208443
NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter) rs1662208035
NM_000350.3(ABCA4):c.[1610G>A;5603A>T]
NM_000350.3(ABCA4):c.[2588G>C;5603A>T]
NM_000350.3(ABCA4):c.[3322C>T;6320G>A]
NM_000350.3(ABCA4):c.[52C>T;5603A>T]
NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T]
NM_000350.3(ABCA4):c.[5603A>T;5714+5G>A]

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