ClinVar Miner

List of variants reported as pathogenic for Unverricht-Lundborg syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NC_000006.12:g.(?_145686102)_(145686316_?)del
NM_000100.3(CSTB):c.218_219delTC (p.Leu73Profs) rs796943858
NM_000100.3(CSTB):c.64C>T (p.Gln22Ter)
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_005506.3(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005670.3(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.3(EPM2A):c.721C>T (p.Arg241Ter) rs104893950

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