ClinVar Miner

List of variants in gene CSTB reported as likely benign for Progressive myoclonic epilepsy

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00101
NM_000100.4(CSTB):c.183C>T (p.Asp61=) rs772899788 0.00009
NM_000100.4(CSTB):c.120C>T (p.Ala40=) rs368198839 0.00004
NM_000100.4(CSTB):c.147G>A (p.Ala49=) rs766654703 0.00004
NM_000100.4(CSTB):c.192C>T (p.Phe64=) rs773820884 0.00004
NM_000100.4(CSTB):c.264C>T (p.Asn88=) rs767258722 0.00004
NM_000100.4(CSTB):c.67-10T>G rs199873087 0.00004
NM_000100.4(CSTB):c.67-12C>T rs776841907 0.00004
NM_000100.4(CSTB):c.96C>T (p.Asn32=) rs1436155713 0.00003
NM_000100.4(CSTB):c.168+13C>T rs910966552 0.00002
NM_000100.4(CSTB):c.180C>T (p.Gly60=) rs771027631 0.00002
NM_000100.4(CSTB):c.135C>T (p.Ser45=) rs375008755 0.00001
NM_000100.4(CSTB):c.169-10C>G rs1487271257 0.00001
NM_000100.4(CSTB):c.174C>T (p.His58=) rs763095750 0.00001
NM_000100.4(CSTB):c.177C>T (p.Val59=) rs765477010 0.00001
NM_000100.4(CSTB):c.201G>A (p.Leu67=) rs1249703879 0.00001
NM_000100.4(CSTB):c.213A>G (p.Gln71=) rs758639236 0.00001
NM_000100.4(CSTB):c.243C>T (p.Thr81=) rs2083999070 0.00001
NM_000100.4(CSTB):c.111G>A (p.Val37=)
NM_000100.4(CSTB):c.144C>T (p.Val48=)
NM_000100.4(CSTB):c.168+19G>T
NM_000100.4(CSTB):c.168+7T>C
NM_000100.4(CSTB):c.168+8G>A rs556221258
NM_000100.4(CSTB):c.169-13G>A
NM_000100.4(CSTB):c.207G>T (p.Val69=)
NM_000100.4(CSTB):c.246A>G (p.Leu82=) rs2123385440
NM_000100.4(CSTB):c.273G>A (p.Lys91=) rs540215875
NM_000100.4(CSTB):c.294C>T (p.Phe98=) rs2123385381
NM_000100.4(CSTB):c.67-4C>G rs2084002305

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