ClinVar Miner

List of variants in gene ATP7B reported as benign by Genetic Services Laboratory, University of Chicago

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
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.2866-13G>C rs7325983 0.10642
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) rs1801246 0.04852
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247 0.04023
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.3891C>T (p.Val1297=) rs114771537 0.01071
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
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.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 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.1336G>C (p.Val446Leu) rs587783298
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.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.3733C>T (p.Pro1245Ser) rs587783316
NM_000053.4(ATP7B):c.41C>A (p.Ala14Asp) rs587783319
NM_000053.4(ATP7B):c.870G>C (p.Val290=) rs587783321
NM_000053.4(ATP7B):c.9G>A (p.Glu3=) rs587783322

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