ClinVar Miner

List of variants in gene combination ATP7A, PGK1 reported as benign for Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=)	rs371939448	0.00037
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg)	rs782577253	0.00003

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