List of variants in gene ATP7B reported as pathogenic by Eurofins NTD LLC (GA)

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	rs191312027	0.00101
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)	rs76151636	0.00100
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)	rs193922103	0.00015
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)	rs72552255	0.00011
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter)	rs137853283	0.00009
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)	rs121908000	0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)	rs137853285	0.00005
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)	rs60431989	0.00004
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)	rs121907990	0.00003
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs)	rs886043423	0.00001
NM_000053.4(ATP7B):c.1605_1609dup (p.Ile537fs)	rs886043238
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)	rs753962912
NM_000053.4(ATP7B):c.2532del (p.Val845fs)	rs755709270
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)	rs886042519
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter)	rs786204578
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)	rs572147914
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter)	rs398123137

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