List of variants in gene ATP7A reported as benign by Ambry Genetics

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_000052.7(ATP7A):c.2299G>C (p.Val767Leu)	rs2227291	0.24533
NM_000052.7(ATP7A):c.327G>A (p.Lys109=)	rs61747968	0.00978
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)	rs143907597	0.00750
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)	rs2228447	0.00731
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)	rs5959130	0.00500
NM_000052.7(ATP7A):c.4226+11T>C	rs200009243	0.00383
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys)	rs61742278	0.00380
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn)	rs144655617	0.00356
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp)	rs148765730	0.00280
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly)	rs146887876	0.00117
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr)	rs138039591	0.00069
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)	rs2234938	0.00066
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)	rs139781067	0.00058
NM_000052.7(ATP7A):c.3801+6T>C	rs181665434	0.00048
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)	rs138958687	0.00046
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=)	rs140838569	0.00028
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)	rs782268170	0.00025
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln)	rs782349186	0.00025
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val)	rs372318616	0.00020
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp)	rs372489000	0.00018
NM_000052.7(ATP7A):c.1737A>G (p.Val579=)	rs189353691	0.00015
NM_000052.7(ATP7A):c.3210C>T (p.His1070=)	rs185917115	0.00012
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)	rs367775730	0.00009
NM_000052.7(ATP7A):c.2657G>A (p.Gly886Asp)	rs188175511	0.00004
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu)	rs782602356	0.00002
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly)	rs782154314	0.00001
NM_000052.7(ATP7A):c.2465T>C (p.Ile822Thr)	rs782768766
NM_000052.7(ATP7A):c.4048= (p.Lys1350=)	rs4826245

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