ClinVar Miner

List of variants in gene ABCA4 reported by PreventionGenetics

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Total variants: 42
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HGVS dbSNP
NM_000350.2(ABCA4):c.1240-14C>T rs4147830
NM_000350.2(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.2(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.2(ABCA4):c.1356+10dupG rs281865386
NM_000350.2(ABCA4):c.1761-50G>A rs61754022
NM_000350.2(ABCA4):c.1937+15C>T rs774567553
NM_000350.2(ABCA4):c.2160+49T>C rs56197337
NM_000350.2(ABCA4):c.2654-36C>T rs145368920
NM_000350.2(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.2(ABCA4):c.302+26A>G rs2297634
NM_000350.2(ABCA4):c.3210G>A (p.Leu1070=) rs113398504
NM_000350.2(ABCA4):c.3213G>A (p.Ser1071=) rs141233353
NM_000350.2(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.2(ABCA4):c.3582C>A (p.Asp1194Glu) rs886038285
NM_000350.2(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4254-38G>A rs17110898
NM_000350.2(ABCA4):c.4773+48C>T rs472908
NM_000350.2(ABCA4):c.4774-17_4774-16delGT rs55860151
NM_000350.2(ABCA4):c.4774-27T>C rs373662165
NM_000350.2(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.2(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.2(ABCA4):c.5715-25A>C rs4147856
NM_000350.2(ABCA4):c.5814A>G (p.Leu1938=) rs4147857
NM_000350.2(ABCA4):c.5836-11G>A rs1800739
NM_000350.2(ABCA4):c.5836-43C>A rs2275031
NM_000350.2(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.2(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.2(ABCA4):c.6006-16G>A rs4147863
NM_000350.2(ABCA4):c.6069T>C (p.Ile2023=) rs1762114
NM_000350.2(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.2(ABCA4):c.6282+7G>A rs17110761
NM_000350.2(ABCA4):c.6285T>C (p.Asp2095=) rs1801555
NM_000350.2(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.2(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.2(ABCA4):c.6729+21C>T rs1800699
NM_000350.2(ABCA4):c.6730-19G>A rs375179475
NM_000350.2(ABCA4):c.6730-3T>C rs1800717
NM_000350.2(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.2(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000350.2(ABCA4):c.6816+28G>C rs6666559
NM_000350.2(ABCA4):c.769-32T>C rs526016

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