ClinVar Miner

List of variants in gene ABCA4 reported by Human Genetics - Radboudumc,Radboudumc

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Total variants: 12
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HGVS dbSNP
NM_000350.2(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.2(ABCA4):c.4537dupC (p.Gln1513Profs) rs281865377
NM_000350.2(ABCA4):c.4539+2001G>A
NM_000350.2(ABCA4):c.5196+1137G>A rs778234759
NM_000350.2(ABCA4):c.5461-10T>C rs1800728
NM_000350.2(ABCA4):c.5584+6T>C rs61750633
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.5917delG (p.Val1973Terfs) rs61751389
NM_000350.2(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.2(ABCA4):c.6729+5_6729+19delGTTGGCCCTGGGGCA rs749526785
NM_000350.2(ABCA4):c.768G>T (p.Val256=) rs62645944

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