List of variants reported as likely pathogenic for Menkes disease by Invitae

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000052.7(ATP7A):c.1544-2A>T	rs2077751404
NM_000052.7(ATP7A):c.2172+5G>A	rs797045347
NM_000052.7(ATP7A):c.2172+5G>C	rs797045347
NM_000052.7(ATP7A):c.2498+2T>G	rs797045357
NM_000052.7(ATP7A):c.2773_2781+4del
NM_000052.7(ATP7A):c.2916+3_2916+6del	rs797045364
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)	rs797045365
NM_000052.7(ATP7A):c.3111+1G>A	rs1557236762
NM_000052.7(ATP7A):c.4005+1G>T	rs797045391
NM_000052.7(ATP7A):c.4005+5G>A
NM_000052.7(ATP7A):c.4006-1G>A	rs1557238665
NM_000052.7(ATP7A):c.610+2T>C

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