ClinVar Miner

List of variants in gene ABCA4 reported as pathogenic by Sharon lab, Hadassah-Hebrew University Medical Center

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_000350.3(ABCA4):c.3050+5G>A rs61751262 0.00002
NM_000350.3(ABCA4):c.5196+1G>A rs61751377 0.00001
NM_000350.3(ABCA4):c.5312+1G>A rs886044750 0.00001
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser) rs61750658 0.00001
NM_000350.2(ABCA4):c.[1A>G;6089G>A]
NM_000350.3(ABCA4):c.1172del (p.Lys391fs) rs1570407032
NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter) rs1557787756
NM_000350.3(ABCA4):c.3449_3451del (p.Cys1150del) rs1570370826
NM_000350.3(ABCA4):c.4254-1G>A rs886044740
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.5059del (p.Ile1687fs) rs1571256775
NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter) rs1437993640
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter) rs886044747
NM_000350.3(ABCA4):c.5333_5336del (p.Met1778fs) rs1571253050
NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg) rs746252741
NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro) rs1571252997
NM_000350.3(ABCA4):c.5460+1G>A rs61753030
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.6077del (p.Leu2026fs) rs1571245809
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_000350.3(ABCA4):c.834del (p.Asp279fs) rs779743222

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