ClinVar Miner

List of variants in gene ABCA4 reported as likely benign for not specified

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.1761-50G>A rs61754022 0.01220
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_000350.3(ABCA4):c.6729+21C>T rs1800699 0.00981
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_000350.3(ABCA4):c.4352+14C>T rs75359153 0.00325
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963 0.00243
NM_000350.3(ABCA4):c.5196+1159G>A rs80110715 0.00191
NM_000350.3(ABCA4):c.4253+13G>A rs145766145 0.00168
NM_000350.3(ABCA4):c.2654-36C>T rs145368920 0.00139
NM_000350.3(ABCA4):c.3191-20C>T rs61754036 0.00130
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_000350.3(ABCA4):c.3297A>C (p.Ser1099=) rs148917659 0.00073
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_000350.3(ABCA4):c.6730-19G>A rs375179475 0.00052
NM_000350.3(ABCA4):c.4296C>T (p.Asp1432=) rs368147821 0.00032
NM_000350.3(ABCA4):c.3213G>A (p.Ser1071=) rs141233353 0.00016
NM_000350.3(ABCA4):c.6522G>A (p.Pro2174=) rs143909323 0.00015
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701 0.00010
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_000350.3(ABCA4):c.5898+20C>T rs761429989 0.00006
NM_000350.3(ABCA4):c.3210G>A (p.Leu1070=) rs113398504 0.00004
NM_000350.3(ABCA4):c.1003C>T (p.Leu335Phe) rs1057520668 0.00003
NM_000350.3(ABCA4):c.1937+15C>T rs774567553 0.00003
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376 0.00002
NM_000350.3(ABCA4):c.2742C>T (p.His914=) rs1362746093 0.00001
NM_000350.3(ABCA4):c.4129-16G>A rs762600499 0.00001
NM_000350.3(ABCA4):c.5955C>T (p.Leu1985=) rs201545948 0.00001
NM_000350.3(ABCA4):c.1002G>C (p.Val334=) rs751548532
NM_000350.3(ABCA4):c.339C>T (p.Leu113=) rs1553196340
NM_000350.3(ABCA4):c.3582C>A (p.Asp1194Glu) rs886038285
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4540-2036C>A rs886044743
NM_000350.3(ABCA4):c.5196+1136C>A rs114147805
NM_000350.3(ABCA4):c.618C>T (p.Ser206=) rs61748536
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=) rs61751379

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