ClinVar Miner

List of variants reported as likely benign for Progressive myoclonic epilepsy by Invitae

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Total variants: 5
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HGVS dbSNP
NM_000100.3(CSTB):c.12G>A (p.Gly4=) rs1555888494
NM_004287.4(GOSR2):c.405C>T (p.Asn135=) rs753166413
NM_004287.4(GOSR2):c.99A>G (p.Val33=) rs1555709339
NM_005506.4(SCARB2):c.1188-5T>C rs775387526
NM_005506.4(SCARB2):c.915G>A (p.Thr305=) rs762138695

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