List of variants in gene ATP7B reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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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.3045G>A (p.Leu1015=)	rs1801248	0.02598
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)	rs121907992	0.00006
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)	rs752850609	0.00001

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