ClinVar Miner

List of variants in gene combination AVEN, RYR3 reported as uncertain significance for Epileptic encephalopathy

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001036.6(RYR3):c.14599G>A (p.Asp4867Asn) rs767355524 0.00009
NM_001036.6(RYR3):c.13811T>C (p.Ile4604Thr) rs377310965 0.00006
NM_001036.6(RYR3):c.14098G>A (p.Glu4700Lys) rs201221837 0.00006
NM_001036.6(RYR3):c.13820A>T (p.Lys4607Met) rs555103509 0.00004
NM_001036.6(RYR3):c.13802T>C (p.Leu4601Pro) rs1014332640 0.00003
NM_001036.6(RYR3):c.13860C>G (p.Asn4620Lys) rs567024433 0.00003
NM_001036.6(RYR3):c.14007+4T>C rs201894323 0.00003
NM_001036.6(RYR3):c.14128G>A (p.Asp4710Asn) rs431825174 0.00003
NM_001036.6(RYR3):c.14585G>A (p.Arg4862His) rs765872802 0.00003
NM_001036.6(RYR3):c.13913A>G (p.Asn4638Ser) rs778736021 0.00002
NM_001036.6(RYR3):c.14104G>A (p.Asp4702Asn) rs909959183 0.00002
NM_001036.6(RYR3):c.13816A>G (p.Met4606Val) rs747633069 0.00001
NM_001036.6(RYR3):c.13826A>G (p.His4609Arg) rs1465461269 0.00001
NM_001036.6(RYR3):c.14091C>A (p.Asn4697Lys) rs752422188 0.00001
NM_001036.6(RYR3):c.14142+4A>G rs1235991079 0.00001
NM_001036.6(RYR3):c.14262C>G (p.Phe4754Leu) rs1040889450 0.00001
NM_001036.6(RYR3):c.14353G>C (p.Glu4785Gln) rs747821141 0.00001
NM_001036.6(RYR3):c.14387T>C (p.Ile4796Thr) rs764029640 0.00001
NM_001036.6(RYR3):c.14515C>A (p.Gln4839Lys) rs1225273407 0.00001
NM_001036.6(RYR3):c.14584C>T (p.Arg4862Cys) rs1309538160 0.00001
NM_001036.6(RYR3):c.13860+1G>A rs1268379736
NM_001036.6(RYR3):c.13889C>G (p.Thr4630Ser) rs1307962205
NM_001036.6(RYR3):c.13910A>G (p.Tyr4637Cys) rs1555493768
NM_001036.6(RYR3):c.14031G>A (p.Leu4677=) rs1597079990
NM_001036.6(RYR3):c.14058G>A (p.Val4686=) rs377333580
NM_001036.6(RYR3):c.14149C>G (p.Leu4717Val) rs972426377
NM_001036.6(RYR3):c.14177C>T (p.Ala4726Val) rs1162778289
NM_001036.6(RYR3):c.14209C>G (p.Pro4737Ala) rs760373919
NM_001036.6(RYR3):c.14291T>G (p.Ile4764Ser) rs2080127373
NM_001036.6(RYR3):c.14299+4T>C rs747788382
NM_001036.6(RYR3):c.14356G>A (p.Asp4786Asn) rs1567354675
NM_001036.6(RYR3):c.14397C>G (p.Asp4799Glu) rs541643213
NM_001036.6(RYR3):c.14443G>C (p.Glu4815Gln) rs1459857507
NM_001036.6(RYR3):c.14595_*9dup (p.Tyr4865_Ter4871=) rs1890080876

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