ClinVar Miner

List of variants reported as benign for Wilson disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.-75C>A rs2277448 0.57328
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_000053.4(ATP7B):c.*1782C>G rs928169 0.55377
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.*1172G>A rs1051332 0.35272
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.*1182C>T rs79490882 0.03607
NM_000053.4(ATP7B):c.*1708A>G rs17076111 0.03588
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.*1717G>T rs77770386 0.02475
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.3403G>A (p.Ala1135Thr) rs187200982 0.00499

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