ClinVar Miner

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

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Total variants: 6
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NM_000052.7(ATP7A):c.1707+1G>A rs1569549753
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp) rs72554652
NM_000052.7(ATP7A):c.408_415del (p.Asn137fs) rs1569549587
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633

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