List of variants in gene ATP7B reported as benign by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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: 15

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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.2855G>A (p.Arg952Lys)	rs732774	0.56484
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	0.04843
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.4311G>A (p.Lys1437=)	rs73202048	0.00704
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	0.00286

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