List of variants in gene ATP7A reported as uncertain significance for not specified

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)	rs143907597	0.00750
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)	rs539177302	0.00012
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)	rs782196306	0.00008
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln)	rs147848649	0.00008
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)	rs368917354	0.00007
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)	rs782076879	0.00005
NM_000052.7(ATP7A):c.4227-1G>A	rs782283173	0.00002
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)	rs373634671	0.00001
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn)	rs371777895	0.00001
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=)	rs1057518370	0.00001
NM_000052.7(ATP7A):c.3658+13A>G	rs797045381	0.00001
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)	rs782062633	0.00001
NM_000052.7(ATP7A):c.-54T>C	rs797045324
NM_000052.7(ATP7A):c.1299A>T (p.Gly433=)	rs797045328
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
NM_000052.7(ATP7A):c.1707+6T>A	rs797045334
NM_000052.7(ATP7A):c.1708-11G>T	rs797045335
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln)
NM_000052.7(ATP7A):c.2106G>T (p.Glu702Asp)	rs797045345
NM_000052.7(ATP7A):c.3044G>C (p.Gly1015Ala)	rs2149104921
NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile)	rs996808810
NM_000052.7(ATP7A):c.3295-12_3295-3del	rs1557237409
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile)	rs879254006
NM_000052.7(ATP7A):c.3778A>G (p.Thr1260Ala)	rs1603390837
NM_000052.7(ATP7A):c.4385C>G (p.Ala1462Gly)

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