ClinVar Miner

List of variants in gene ATP7B reported as benign

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Total variants: 110
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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.3419T>C (p.Val1140Ala) rs1801249 0.57256
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.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_000053.4(ATP7B):c.1870-217A>G rs9316562 0.54480
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_000053.4(ATP7B):c.4022-329C>T rs2282058 0.52634
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
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.2866-13G>C rs7325983 0.10642
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.2973G>A (p.Thr991=) rs1801246 0.04852
NM_000053.4(ATP7B):c.51+110G>A rs61958788 0.04081
NM_000053.4(ATP7B):c.3557-308C>T rs9526809 0.04027
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247 0.04023
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.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
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.1707+9T>C rs114449708 0.01274
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) rs59120265 0.01110
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.-54G>T rs115564351 0.00634
NM_000053.4(ATP7B):c.3557-31G>T rs74085875 0.00585
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) rs187200982 0.00499
NM_000053.4(ATP7B):c.*15C>T rs73498144 0.00493
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.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224 0.00305
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000053.4(ATP7B):c.4125-23G>A rs201152941 0.00277
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_000053.4(ATP7B):c.3060+16G>T rs76163470 0.00196
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_000053.4(ATP7B):c.*16G>A rs193922100 0.00105
NM_000053.4(ATP7B):c.1375G>T (p.Val459Leu) rs183044693 0.00080
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000053.4(ATP7B):c.813C>T (p.Cys271=) rs572147914 0.00013
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000053.4(ATP7B):c.1947-4C>T rs74904335 0.00007
NM_000053.4(ATP7B):c.2583C>T (p.Ala861=) rs565717791 0.00007
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020 0.00006
NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp) rs373762572 0.00006
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838 0.00003
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=) rs534622837 0.00001
NM_000053.4(ATP7B):c.3169C>T (p.Leu1057=) rs587783308 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 0.00001
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314 0.00001
NM_000053.4(ATP7B):c.4221T>A (p.Asp1407Glu) rs587783320 0.00001
NM_000053.3(ATP7B):c.-119del rs587783297
NM_000053.4(ATP7B):c.1286-8dup
NM_000053.4(ATP7B):c.1336G>C (p.Val446Leu) rs587783298
NM_000053.4(ATP7B):c.1544-257del rs201291586
NM_000053.4(ATP7B):c.1707+9TG[3] rs797045401
NM_000053.4(ATP7B):c.1878C>T (p.Gly626=) rs587783300
NM_000053.4(ATP7B):c.2166G>A (p.Leu722=) rs587783302
NM_000053.4(ATP7B):c.2623G>A (p.Gly875Arg) rs587783304
NM_000053.4(ATP7B):c.2673C>G (p.Gly891=) rs587783305
NM_000053.4(ATP7B):c.3061-6dup
NM_000053.4(ATP7B):c.3210C>T (p.Pro1070=) rs587783310
NM_000053.4(ATP7B):c.3381G>A (p.Leu1127=) rs587783311
NM_000053.4(ATP7B):c.3399T>C (p.Leu1133=) rs587783312
NM_000053.4(ATP7B):c.3428C>A (p.Thr1143Asn) rs587783313
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3700-8dup
NM_000053.4(ATP7B):c.3733C>T (p.Pro1245Ser) rs587783316
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
NM_000053.4(ATP7B):c.41C>A (p.Ala14Asp) rs587783319
NM_000053.4(ATP7B):c.51+17del
NM_000053.4(ATP7B):c.52-3dup
NM_000053.4(ATP7B):c.540C>T (p.Asn180=) rs537892210
NM_000053.4(ATP7B):c.870G>C (p.Val290=) rs587783321
NM_000053.4(ATP7B):c.9G>A (p.Glu3=) rs587783322

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