ClinVar Miner

List of variants reported as uncertain significance for Cutis laxa, X-linked by Inherited Neuropathy Consortium Ii, University Of Miami

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.2406+3A>T
NM_000052.7(ATP7A):c.2407-433A>G
NM_000052.7(ATP7A):c.2497A>G (p.Ser833Gly) rs2149096859
NM_000052.7(ATP7A):c.2771A>G (p.Gln924Arg)
NM_000052.7(ATP7A):c.2916+2480T>G
NM_000052.7(ATP7A):c.2917-4A>G rs2149104823
NM_000052.7(ATP7A):c.3111+4A>C
NM_000052.7(ATP7A):c.3293A>C (p.Gln1098Pro)
NM_000052.7(ATP7A):c.3294+763C>G
NM_000052.7(ATP7A):c.3511+5G>A
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.7(ATP7A):c.4352del (p.Gly1451fs) rs1569550376

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