ClinVar Miner

List of variants in gene ABCA4 reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.141A>G (p.Pro47=) rs4847281 0.98746
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555 0.27862
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034 0.01415
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_000350.3(ABCA4):c.5196+1159G>A rs80110715 0.00191
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006

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