ClinVar Miner

List of variants in gene combination AVEN, RYR3 reported as likely benign for Epileptic encephalopathy

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001036.6(RYR3):c.14518-19G>A rs187683828 0.00062
NM_001036.6(RYR3):c.14280C>T (p.Ile4760=) rs368370540 0.00050
NM_001036.6(RYR3):c.14127C>T (p.Cys4709=) rs374117753 0.00031
NM_001036.6(RYR3):c.13877C>T (p.Ala4626Val) rs202096363 0.00011
NM_001036.6(RYR3):c.13861-4C>G rs201701548 0.00009
NM_001036.6(RYR3):c.14028C>T (p.Leu4676=) rs374667875 0.00009
NM_001036.6(RYR3):c.14130C>T (p.Asp4710=) rs369078948 0.00009
NM_001036.6(RYR3):c.14163C>T (p.Tyr4721=) rs371505693 0.00009
NM_001036.6(RYR3):c.14058G>T (p.Val4686=) rs377333580 0.00008
NM_001036.6(RYR3):c.14034C>T (p.Ala4678=) rs369041765 0.00006
NM_001036.6(RYR3):c.14097C>T (p.Ser4699=) rs777658408 0.00006
NM_001036.6(RYR3):c.14511G>A (p.Thr4837=) rs758219464 0.00006
NM_001036.6(RYR3):c.14583T>C (p.Phe4861=) rs762392050 0.00005
NM_001036.6(RYR3):c.13939T>C (p.Leu4647=) rs376267599 0.00004
NM_001036.6(RYR3):c.14103C>T (p.Asp4701=) rs202170755 0.00004
NM_001036.6(RYR3):c.14490T>C (p.Asn4830=) rs757023207 0.00004
NM_001036.6(RYR3):c.14571C>T (p.Ala4857=) rs574080321 0.00003
NM_001036.6(RYR3):c.14466-8C>T rs763714958 0.00002
NM_001036.6(RYR3):c.14518-7A>G rs780896166 0.00002
NM_001036.6(RYR3):c.13801C>T (p.Leu4601=) rs868781162 0.00001
NM_001036.6(RYR3):c.13842A>G (p.Gly4614=) rs1323020118 0.00001
NM_001036.6(RYR3):c.13899C>T (p.Val4633=) rs996769654 0.00001
NM_001036.6(RYR3):c.14008-9C>T rs2079850295 0.00001
NM_001036.6(RYR3):c.14070C>T (p.Asn4690=) rs754520283 0.00001
NM_001036.6(RYR3):c.14319C>T (p.Phe4773=) rs574626021 0.00001
NM_001036.6(RYR3):c.14517+7A>C rs779658280 0.00001
NM_001036.6(RYR3):c.13878C>T (p.Ala4626=) rs1395244417
NM_001036.6(RYR3):c.13884T>C (p.Tyr4628=) rs1236215905
NM_001036.6(RYR3):c.13998T>C (p.Asn4666=) rs1237804448
NM_001036.6(RYR3):c.14004A>G (p.Lys4668=) rs2153001337
NM_001036.6(RYR3):c.14124G>A (p.Lys4708=) rs1374677399
NM_001036.6(RYR3):c.14142+6AGCCCACCCACTGCGGGGCC[3] rs139758855
NM_001036.6(RYR3):c.14244C>G (p.Val4748=) rs868842736
NM_001036.6(RYR3):c.14364+10C>T rs898192253
NM_001036.6(RYR3):c.14418T>C (p.His4806=) rs945157767
NM_001036.6(RYR3):c.14466-7G>A rs180882042
NM_001036.6(RYR3):c.14466-7G>C rs180882042
NM_001036.6(RYR3):c.14475G>A (p.Leu4825=) rs2153026492
NM_001036.6(RYR3):c.14518-7_14518-4dup rs775464569
NM_001036.6(RYR3):c.14535G>A (p.Lys4845=) rs2153029627

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