ClinVar Miner

List of variants in gene ABCA4 studied for Retinitis pigmentosa 19

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Total variants: 9
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HGVS dbSNP
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.3(ABCA4):c.1848del (p.Glu616fs) rs61751386
NM_000350.3(ABCA4):c.1938-1G>A rs61751263
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+1G>T rs61751388
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944

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