ClinVar Miner

List of variants in gene SCARB2 reported as likely benign for Unverricht-Lundborg syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_005506.4(SCARB2):c.1188-5T>C rs775387526
NM_005506.4(SCARB2):c.1407G>A (p.Ala469=) rs144878666
NM_005506.4(SCARB2):c.228C>T (p.Leu76=) rs35069772
NM_005506.4(SCARB2):c.276-7C>G rs200507087
NM_005506.4(SCARB2):c.303A>G (p.Gln101=) rs1242165140
NM_005506.4(SCARB2):c.33G>T (p.Thr11=) rs774721226
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324
NM_005506.4(SCARB2):c.424-4G>A rs368869126
NM_005506.4(SCARB2):c.424-5C>T rs192876326
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005506.4(SCARB2):c.486C>T (p.Ala162=) rs143518519
NM_005506.4(SCARB2):c.567T>C (p.His189=) rs141208366
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn) rs773017713
NM_005506.4(SCARB2):c.690A>G (p.Glu230=) rs957776724
NM_005506.4(SCARB2):c.915G>A (p.Thr305=) rs762138695

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