List of variants in gene ATP7B reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)	rs1801249	0.57256
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.1366G>C (p.Val456Leu)	rs1801244	0.41941
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.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.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.3557-31G>T	rs74085875	0.00585
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.3369G>A (p.Pro1123=)	rs61733679	0.00362
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.2355+13T>G	rs139211339	0.00293
NM_000053.4(ATP7B):c.3060+16G>T	rs76163470	0.00196
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)	rs145798966	0.00150
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)	rs398123136	0.00005

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