ClinVar Miner

List of variants in gene ATP7B reported as benign by GeneDx

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Total variants: 42
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HGVS dbSNP
NC_000013.11:g.51937226C>G
NC_000013.11:g.51950424C>T
NC_000013.11:g.52011745A>G
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.4(ATP7B):c.1285+287G>A
NM_000053.4(ATP7B):c.1286-256T>C
NM_000053.4(ATP7B):c.1286-92A>G
NM_000053.4(ATP7B):c.1286-93A>C
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.4(ATP7B):c.1544-53A>C
NM_000053.4(ATP7B):c.1707+9T>C rs114449708
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544
NM_000053.4(ATP7B):c.1870-217A>G
NM_000053.4(ATP7B):c.2356-217G>A
NM_000053.4(ATP7B):c.2356-296A>G
NM_000053.4(ATP7B):c.2447+289G>T
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.4(ATP7B):c.2866-105G>A
NM_000053.4(ATP7B):c.2866-13G>C rs7325983
NM_000053.4(ATP7B):c.2866-90G>T
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) rs1801246
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248
NM_000053.4(ATP7B):c.3060+16G>T rs76163470
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.3243+173_3243+175del
NM_000053.4(ATP7B):c.3243+183_3243+184insGCC
NM_000053.4(ATP7B):c.3243+290G>A
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) rs59120265
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) rs187200982
NM_000053.4(ATP7B):c.3412+292A>G
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.4(ATP7B):c.3557-95A>G
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3699+299G>A
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.4(ATP7B):c.3903+6C>T rs2282057
NM_000053.4(ATP7B):c.4022-158G>C
NM_000053.4(ATP7B):c.4022-329C>T
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048

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