ClinVar Miner

List of variants in gene EPM2A reported as likely benign for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00197
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00087
NM_005670.4(EPM2A):c.681C>T (p.Ala227=) rs61758156 0.00057
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=) rs142027344 0.00029
NM_005670.4(EPM2A):c.876G>A (p.Val292=) rs774234576 0.00025
NM_005670.4(EPM2A):c.984G>T (p.Val328=) rs200996083 0.00006
NM_005670.4(EPM2A):c.348C>T (p.Asn116=) rs760860945 0.00004
NM_005670.4(EPM2A):c.476+7A>G rs756197281 0.00004
NM_005670.4(EPM2A):c.918C>T (p.Asp306=) rs375436219 0.00004
NM_005670.4(EPM2A):c.441T>C (p.Phe147=) rs965931486 0.00003
NM_005670.4(EPM2A):c.762G>A (p.Ala254=) rs199586710 0.00003
NM_005670.4(EPM2A):c.801C>T (p.Asn267=) rs181746165 0.00003
NM_005670.4(EPM2A):c.807G>A (p.Gly269=) rs755516128 0.00003
NM_005670.4(EPM2A):c.936G>A (p.Arg312=) rs773315475 0.00003
NM_005670.4(EPM2A):c.302-12T>C rs771456156 0.00002
NM_005670.4(EPM2A):c.345C>T (p.Asn115=) rs764231649 0.00002
NM_005670.4(EPM2A):c.477-13A>G rs778452911 0.00002
NM_005670.4(EPM2A):c.620G>A (p.Arg207His) rs571938170 0.00002
NM_005670.4(EPM2A):c.768G>A (p.Leu256=) rs753561820 0.00002
NM_005670.4(EPM2A):c.825G>A (p.Ala275=) rs762115387 0.00002
NM_005670.4(EPM2A):c.924G>A (p.Glu308=) rs1439211009 0.00002
NM_005670.4(EPM2A):c.477-14T>C rs914299630 0.00001
NM_005670.4(EPM2A):c.477-15A>G rs542654431 0.00001
NM_005670.4(EPM2A):c.666G>A (p.Arg222=) rs762189100 0.00001
NM_005670.4(EPM2A):c.714C>T (p.Thr238=) rs762653955 0.00001
NM_005670.4(EPM2A):c.719-5C>T rs768538455 0.00001
NM_005670.4(EPM2A):c.726A>G (p.Val242=) rs1485448690 0.00001
NM_005670.4(EPM2A):c.744G>A (p.Ala248=) rs538717552 0.00001
NM_005670.4(EPM2A):c.774G>A (p.Lys258=) rs1014840416 0.00001
NM_005670.4(EPM2A):c.813C>T (p.Gly271=) rs1162902926 0.00001
NM_005670.4(EPM2A):c.822C>T (p.Thr274=) rs763812238 0.00001
NM_005670.4(EPM2A):c.834C>T (p.Cys278=) rs759427349 0.00001
NM_005670.4(EPM2A):c.927C>G (p.Ala309=) rs1181128980 0.00001
NM_005670.4(EPM2A):c.302-17A>G rs1286332017
NM_005670.4(EPM2A):c.302-20A>T rs779211684
NM_005670.4(EPM2A):c.302-4C>T rs1780908908
NM_005670.4(EPM2A):c.302-7G>A rs1780909090
NM_005670.4(EPM2A):c.333T>C (p.Thr111=) rs1780905564
NM_005670.4(EPM2A):c.342A>G (p.Glu114=)
NM_005670.4(EPM2A):c.360T>C (p.Gly120=) rs2128614372
NM_005670.4(EPM2A):c.363G>A (p.Val121=)
NM_005670.4(EPM2A):c.411T>C (p.Asn137=)
NM_005670.4(EPM2A):c.438T>C (p.Tyr146=)
NM_005670.4(EPM2A):c.476+15A>G
NM_005670.4(EPM2A):c.476+19T>G
NM_005670.4(EPM2A):c.477-19C>T
NM_005670.4(EPM2A):c.477-6C>T
NM_005670.4(EPM2A):c.501T>C (p.Gly167=)
NM_005670.4(EPM2A):c.513T>C (p.Arg171=)
NM_005670.4(EPM2A):c.525T>C (p.His175=) rs2128562729
NM_005670.4(EPM2A):c.528A>G (p.Val176=)
NM_005670.4(EPM2A):c.546T>C (p.His182=) rs1776583674
NM_005670.4(EPM2A):c.552G>A (p.Leu184=)
NM_005670.4(EPM2A):c.558T>C (p.Ile186=)
NM_005670.4(EPM2A):c.564T>G (p.Ala188=) rs1342189516
NM_005670.4(EPM2A):c.576C>T (p.Phe192=)
NM_005670.4(EPM2A):c.603T>C (p.Asn201=) rs748995485
NM_005670.4(EPM2A):c.639T>C (p.Thr213=)
NM_005670.4(EPM2A):c.714C>G (p.Thr238=) rs762653955
NM_005670.4(EPM2A):c.719-15C>T
NM_005670.4(EPM2A):c.719-7A>C
NM_005670.4(EPM2A):c.759T>C (p.His253=) rs1775923559
NM_005670.4(EPM2A):c.777A>G (p.Gly259=)
NM_005670.4(EPM2A):c.783C>T (p.Ile261=)
NM_005670.4(EPM2A):c.789C>T (p.Tyr263=)
NM_005670.4(EPM2A):c.792G>A (p.Val264=)
NM_005670.4(EPM2A):c.873G>A (p.Lys291=)
NM_005670.4(EPM2A):c.876G>T (p.Val292=) rs774234576
NM_005670.4(EPM2A):c.894C>T (p.Ala298=) rs1775904922
NM_005670.4(EPM2A):c.903G>A (p.Pro301=) rs141361861
NM_005670.4(EPM2A):c.906T>C (p.Ala302=)
NM_005670.4(EPM2A):c.942A>G (p.Gln314=)
NM_005670.4(EPM2A):c.975T>C (p.Arg325=) rs370469632
NM_005670.4(EPM2A):c.981T>G (p.Ser327=) rs2128555915

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