ClinVar Miner

List of variants in gene combination CNTN2, LOC126805985 reported as likely benign for Epilepsy, familial adult myoclonic, 5

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.2835C>T (p.Thr945=) rs141466578 0.00035
NM_005076.5(CNTN2):c.2844+11A>C rs377297728 0.00019
NM_005076.5(CNTN2):c.2760C>T (p.Ser920=) rs201621031 0.00010
NM_005076.5(CNTN2):c.2985T>C (p.Pro995=) rs138239566 0.00008
NM_005076.5(CNTN2):c.2880G>A (p.Thr960=) rs1201954383 0.00003
NM_005076.5(CNTN2):c.2934C>A (p.Gly978=) rs138851018 0.00003
NM_005076.5(CNTN2):c.2736G>A (p.Pro912=) rs746965528 0.00002
NM_005076.5(CNTN2):c.2845-5C>T rs1239961379 0.00002
NM_005076.5(CNTN2):c.2879C>T (p.Thr960Met) rs752800918 0.00002
NM_005076.5(CNTN2):c.3001G>A (p.Val1001Met) rs369729930 0.00001
NM_005076.5(CNTN2):c.3009T>C (p.Asn1003=) rs757390584 0.00001
NM_005076.5(CNTN2):c.2732-12C>T
NM_005076.5(CNTN2):c.2778T>C (p.Ser926=)
NM_005076.5(CNTN2):c.2784T>C (p.Leu928=) rs1354778874
NM_005076.5(CNTN2):c.2811T>C (p.Pro937=)
NM_005076.5(CNTN2):c.2835C>A (p.Thr945=)
NM_005076.5(CNTN2):c.2892C>T (p.Thr964=)
NM_005076.5(CNTN2):c.2967C>T (p.Pro989=)
NM_005076.5(CNTN2):c.2979G>A (p.Gly993=)
NM_005076.5(CNTN2):c.2988A>G (p.Ala996=)
NM_005076.5(CNTN2):c.3000C>A (p.Ile1000=) rs947096199
NM_005076.5(CNTN2):c.3000C>T (p.Ile1000=)
NM_005076.5(CNTN2):c.3013+14C>T rs2151200888
NM_005076.5(CNTN2):c.3013+15C>T
NM_005076.5(CNTN2):c.3013+17A>G
NM_005076.5(CNTN2):c.3013+19C>G

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