ClinVar Miner

List of variants in gene ABCA4 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_000350.3(ABCA4):c.2588-12C>G rs61751396 0.00183
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148 0.00120
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=) rs141004967 0.00112
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919 0.00100
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=) rs139050119 0.00097
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_000350.3(ABCA4):c.3213G>A (p.Ser1071=) rs141233353 0.00016
NM_000350.3(ABCA4):c.741C>T (p.Asn247=) rs372976742 0.00013
NM_000350.3(ABCA4):c.2763G>A (p.Glu921=) rs749234960 0.00004
NM_000350.3(ABCA4):c.1773T>A (p.Ser591=) rs779659025 0.00002
NM_000350.3(ABCA4):c.1833G>T (p.Leu611=) rs774263519 0.00002
NM_000350.3(ABCA4):c.1263G>A (p.Leu421=) rs568781940 0.00001
NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=) rs886044739 0.00001
NM_000350.3(ABCA4):c.4253+7G>A rs369267759 0.00001
NM_000350.3(ABCA4):c.1938-822_1938-808del rs558115674
NM_000350.3(ABCA4):c.3328+645T>C
NM_000350.3(ABCA4):c.4500A>G (p.Pro1500=) rs1571263368
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=) rs61751379

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