ClinVar Miner

List of variants in gene ABCA4 reported as benign by GeneDx

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Gene type:
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Total variants: 57
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HGVS dbSNP
NM_000350.2:c.+10C>A
NM_000350.3(ABCA4):c.1240-14C>T rs4147830
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=) rs139050119
NM_000350.3(ABCA4):c.160+212G>T
NM_000350.3(ABCA4):c.2160+470T>C
NM_000350.3(ABCA4):c.2588-12C>G rs61751396
NM_000350.3(ABCA4):c.2744-244G>A
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034
NM_000350.3(ABCA4):c.3051-195C>A
NM_000350.3(ABCA4):c.3190+101G>A
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.3(ABCA4):c.3523-9C>G rs374302531
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.3(ABCA4):c.4128+156C>T
NM_000350.3(ABCA4):c.4129-278G>T
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4254-171C>T
NM_000350.3(ABCA4):c.4352+168A>G
NM_000350.3(ABCA4):c.4539+1702A>G
NM_000350.3(ABCA4):c.4539+2029C>G
NM_000350.3(ABCA4):c.4540-2095G>C
NM_000350.3(ABCA4):c.4540-2169A>G
NM_000350.3(ABCA4):c.4668-15C>T rs61754054
NM_000350.3(ABCA4):c.4774-17_4774-16del rs55860151
NM_000350.3(ABCA4):c.5018+8A>G rs188800817
NM_000350.3(ABCA4):c.5019-176T>C
NM_000350.3(ABCA4):c.5197-186T>C
NM_000350.3(ABCA4):c.5313-193A>G
NM_000350.3(ABCA4):c.5313-283T>G
NM_000350.3(ABCA4):c.5461-291A>C
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.3(ABCA4):c.570+1888A>G
NM_000350.3(ABCA4):c.570+20C>T rs78637152
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857
NM_000350.3(ABCA4):c.5836-11G>A rs1800739
NM_000350.3(ABCA4):c.5836-167C>T
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.3(ABCA4):c.6282+7G>A rs17110761
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.3(ABCA4):c.66+234A>G
NM_000350.3(ABCA4):c.66+81A>G
NM_000350.3(ABCA4):c.6730-19G>A rs375179475
NM_000350.3(ABCA4):c.6730-3T>C rs1800717
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652

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