ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NC_000006.12:g.(?_145625675)_(145635506_?)del
NC_000006.12:g.(?_145625675)_(145735518_?)del
NC_000006.12:g.(?_145686102)_(145686316_?)del
NC_000017.11:g.(?_46923173)_(46940633_?)del
NC_000021.8:g.(?_44838120)_(45629566_?)del
NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) rs545986367
NM_000100.3(CSTB):c.200_203dup (p.Val69fs) rs1601855887
NM_000100.3(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000100.4(CSTB):c.214_215TC[2] (p.Leu73fs) rs796943858
NM_004287.3(GOSR2):c.430G>T rs387906881
NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter) rs1380954046
NM_004287.5(GOSR2):c.262del (p.Gln88fs)
NM_005506.4(SCARB2):c.1002dup (p.Ile335fs)
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005506.4(SCARB2):c.432_433AG[3] (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.956del (p.Leu319fs)
NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer)
NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs)
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter)
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys)

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