List of variants in gene ATP7A reported as benign for Menkes kinky-hair syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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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.1516A>G (p.Ile506Val)	rs143907597	0.00750
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp)	rs148765730	0.00280
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)	rs138958687	0.00046
NM_000052.7(ATP7A):c.3210C>T (p.His1070=)	rs185917115	0.00012
NM_000052.7(ATP7A):c.2063G>A (p.Ser688Asn)	rs1367140209
NM_000052.7(ATP7A):c.4048= (p.Lys1350=)	rs4826245

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