ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.3013+6G>C rs781436489 0.00017
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.2902T>C (p.Trp968Arg) rs770455192 0.00003
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.3013+5T>A rs764921795 0.00001
NM_005076.5(CNTN2):c.2735C>T (p.Pro912Leu) rs777653447
NM_005076.5(CNTN2):c.2750G>C (p.Gly917Ala)
NM_005076.5(CNTN2):c.2834C>A (p.Thr945Asn)
NM_005076.5(CNTN2):c.2845-3C>T
NM_005076.5(CNTN2):c.2861A>G (p.Asp954Gly) rs767209651
NM_005076.5(CNTN2):c.2886C>G (p.His962Gln) rs56111335
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.2983C>T (p.Pro995Ser) rs1654685363
NM_005076.5(CNTN2):c.3011G>A (p.Gly1004Glu) rs1364145938
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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