ClinVar Miner

List of variants reported as not provided for Wilson disease by GenomeConnect, ClinGen

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621
NM_000053.4(ATP7B):c.4090_4091GT[1] (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570

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