ClinVar Miner

List of variants in gene ATP7B reported by Mendelics

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Total variants: 26
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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.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
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.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn) rs1230241288 0.00001
NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr) rs548512104 0.00001
NM_000053.4(ATP7B):c.3964C>T (p.Arg1322Cys) rs534984209 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000053.4(ATP7B):c.1389_1405del (p.Gly464fs) rs1593775055
NM_000053.4(ATP7B):c.2304del (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) rs1566498495
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3341C>T (p.Ala1114Val) rs2138850408
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3809A>T (p.Asn1270Ile) rs121907990
NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly) rs1593645393
NM_000053.4(ATP7B):c.4388A>G (p.Gln1463Arg) rs202131204

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