ClinVar Miner

List of variants in gene ATP7B reported as benign for not provided

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.3412+292A>G rs3783240 0.70499
NM_000053.4(ATP7B):c.1544-53A>C rs2147363 0.69725
NM_000053.4(ATP7B):c.2356-217G>A rs752569 0.57418
NM_000053.4(ATP7B):c.3699+299G>A rs1924608 0.56900
NM_000053.4(ATP7B):c.3243+290G>A rs4943044 0.56747
NM_000053.4(ATP7B):c.4021+50G>C rs9535795 0.56559
NM_000053.4(ATP7B):c.1870-217A>G rs9316562 0.54480
NM_000053.4(ATP7B):c.4022-329C>T rs2282058 0.52634
NM_000053.4(ATP7B):c.1285+287G>A rs1951922 0.41243
NM_000053.4(ATP7B):c.1286-256T>C rs3825527 0.40531
NM_000053.4(ATP7B):c.1286-93A>C rs3742288 0.40483
NM_000053.4(ATP7B):c.2356-296A>G rs752570 0.36981
NM_000053.4(ATP7B):c.2447+289G>T rs3825526 0.35501
NM_000053.4(ATP7B):c.2866-90G>T rs2296246 0.35437
NM_000053.4(ATP7B):c.2448-25G>A rs9526811 0.35419
NM_000053.4(ATP7B):c.1870-65G>A rs9535809 0.18440
NM_000053.4(ATP7B):c.3244-219A>G rs60579905 0.11078
NM_000053.4(ATP7B):c.2866-105G>A rs41292784 0.08370
NM_000053.4(ATP7B):c.3557-95A>G rs9526808 0.06465
NM_000053.4(ATP7B):c.3557-308C>T rs9526809 0.04027
NM_000053.4(ATP7B):c.3243+183_3243+184insGCC rs879917441 0.03930
NM_000053.4(ATP7B):c.3243+173_3243+175del rs879462650 0.03921
NM_000053.4(ATP7B):c.3243+179A>C rs557154208 0.03920
NM_000053.4(ATP7B):c.*190C>A rs115420019 0.03241
NM_000053.4(ATP7B):c.1286-92A>G rs74087029 0.02273
NM_000053.4(ATP7B):c.52-306C>T rs17479855 0.02262
NM_000053.4(ATP7B):c.1543+51G>A rs151202111 0.01480
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537 0.01071
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) rs187200982 0.00499
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00442
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888 0.00430
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000053.4(ATP7B):c.1544-257del rs201291586
NM_000053.4(ATP7B):c.4021+135_4021+136del rs57778802
NM_000053.4(ATP7B):c.4021+136del rs57778802
NM_000053.4(ATP7B):c.4022-158G>C rs74085867
NM_000053.4(ATP7B):c.4022-159G>C rs2282059

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