ClinVar Miner

List of variants in gene CNTN2, LOC126805985 studied for Epilepsy, familial adult myoclonic, 5

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.2922T>G (p.Pro974=) rs116036521 0.01076
NM_005076.5(CNTN2):c.2845-12T>C rs74139115 0.00275
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.3013+6G>C rs781436489 0.00017
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.2741G>A (p.Arg914Gln) rs373583840 0.00005
NM_005076.5(CNTN2):c.2893G>A (p.Gly965Ser) rs558282228 0.00004
NM_005076.5(CNTN2):c.2880G>A (p.Thr960=) rs1201954383 0.00003
NM_005076.5(CNTN2):c.2902T>C (p.Trp968Arg) rs770455192 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.2964G>A (p.Gly988=) rs566959580 0.00002
NM_005076.5(CNTN2):c.2752A>G (p.Asn918Asp) rs1160114127 0.00001
NM_005076.5(CNTN2):c.2775C>G (p.Ser925Arg) rs1654649315 0.00001
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.3013+5T>A rs764921795 0.00001
NM_005076.5(CNTN2):c.2732-12C>T
NM_005076.5(CNTN2):c.2735C>T (p.Pro912Leu) rs777653447
NM_005076.5(CNTN2):c.2740C>T (p.Arg914Ter) rs768608238
NM_005076.5(CNTN2):c.2750G>C (p.Gly917Ala)
NM_005076.5(CNTN2):c.2773del (p.Ser925fs) rs2151200415
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.2834C>A (p.Thr945Asn)
NM_005076.5(CNTN2):c.2835C>A (p.Thr945=)
NM_005076.5(CNTN2):c.2845-3C>T
NM_005076.5(CNTN2):c.2861A>G (p.Asp954Gly) rs767209651
NM_005076.5(CNTN2):c.2874_2875del (p.Pro959fs)
NM_005076.5(CNTN2):c.2886C>G (p.His962Gln) rs56111335
NM_005076.5(CNTN2):c.2886C>T (p.His962=) rs56111335
NM_005076.5(CNTN2):c.2892C>T (p.Thr964=)
NM_005076.5(CNTN2):c.2905A>G (p.Ile969Val)
NM_005076.5(CNTN2):c.2923G>A (p.Glu975Lys) rs1654681238
NM_005076.5(CNTN2):c.2926G>A (p.Asp976Asn)
NM_005076.5(CNTN2):c.2933G>C (p.Gly978Ala) rs1654682070
NM_005076.5(CNTN2):c.2944G>A (p.Val982Ile) rs761355817
NM_005076.5(CNTN2):c.2954G>A (p.Arg985Gln) rs1348228431
NM_005076.5(CNTN2):c.2966C>T (p.Pro989Leu) rs1193731341
NM_005076.5(CNTN2):c.2967C>T (p.Pro989=)
NM_005076.5(CNTN2):c.2979G>A (p.Gly993=)
NM_005076.5(CNTN2):c.2983C>T (p.Pro995Ser) rs1654685363
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.3011G>A (p.Gly1004Glu) rs1364145938
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
NM_005076.5(CNTN2):c.3013+1G>A
NM_005076.5(CNTN2):c.3013+4C>G rs1654687741
NM_005076.5(CNTN2):c.3013+6_3013+8del rs752153648

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