List of variants in gene ATP7B reported as likely 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: 27

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.3903+6C>T	rs2282057	0.53754
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)	rs1801243	0.41549
NM_000053.4(ATP7B):c.-54G>T	rs115564351	0.00634
NM_000053.4(ATP7B):c.*15C>T	rs73498144	0.00493
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)	rs74085882	0.00430
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)	rs60986317	0.00282
NM_000053.4(ATP7B):c.4125-23G>A	rs201152941	0.00277
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)	rs116587608	0.00227
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)	rs148399850	0.00192
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)	rs143556945	0.00135
NM_000053.4(ATP7B):c.*23G>T	rs201108784	0.00108
NM_000053.4(ATP7B):c.51+31G>A	rs116654819	0.00105
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)	rs373081328	0.00078
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=)	rs145887771	0.00012
NM_000053.4(ATP7B):c.4021+34G>A	rs373250873	0.00007
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)	rs368902724	0.00005
NM_000053.4(ATP7B):c.2127C>T (p.Leu709=)	rs780843377	0.00003
NM_000053.4(ATP7B):c.396C>T (p.Ser132=)	rs377081763	0.00002
NM_000053.4(ATP7B):c.1896C>A (p.Ala632=)	rs752696791	0.00001
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)	rs751202110	0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)	rs375007352	0.00001
NM_000053.4(ATP7B):c.1707+17C>A
NM_000053.4(ATP7B):c.1707+18G>A
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)	rs746358240
NM_000053.4(ATP7B):c.3556+29TC[2]	rs575346789
NM_000053.4(ATP7B):c.3615T>C (p.Ala1205=)	rs755324767
NM_000053.4(ATP7B):c.51+14C>T	rs1566687529

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