ClinVar Miner

List of variants studied for Menkes kinky-hair syndrome by Mendelics

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Total variants: 9
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NM_000052.7(ATP7A):c.-21-2239C>T rs62621209
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) rs1569549841
NM_000052.7(ATP7A):c.1947-1G>A rs794729231
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291
NM_000052.7(ATP7A):c.2836_2837del (p.Val946fs) rs1603387278
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys) rs999014839
NM_000052.7(ATP7A):c.3913G>A (p.Asp1305Asn) rs1603391127
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245

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