List of variants reported as likely pathogenic for Menkes kinky-hair syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)	rs138958687	0.00046
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro)	rs72554639
NM_000052.7(ATP7A):c.1996G>A (p.Gly666Arg)	rs797045344
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His)	rs797045348
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp)	rs797045350
NM_000052.7(ATP7A):c.2750T>A (p.Val917Asp)	rs797045362
NM_000052.7(ATP7A):c.2781G>C (p.Lys927Asn)	rs797045363
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)	rs797045365
NM_000052.7(ATP7A):c.3294+1G>T	rs797045374
NM_000052.7(ATP7A):c.3352G>T (p.Gly1118Cys)	rs797045376
NM_000052.7(ATP7A):c.3800A>T (p.Gln1267Leu)	rs797045385
NM_000052.7(ATP7A):c.3801+4A>G	rs797045387
NM_000052.7(ATP7A):c.4123G>A (p.Gly1375Arg)	rs797045394
NM_000052.7(ATP7A):c.4187C>T (p.Ser1396Leu)	rs797045396

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