ClinVar Miner

List of variants in gene EPM2A studied for not provided

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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_005670.4(EPM2A):c.476+92C>T rs702322 0.72902
NM_005670.4(EPM2A):c.*1472G>A rs1045820 0.46044
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590 0.18342
NM_005670.4(EPM2A):c.477-171C>G rs13200495 0.08336
NM_005670.4(EPM2A):c.*1639C>T rs73568389 0.07474
NM_005670.4(EPM2A):c.476+35A>T rs6902952 0.07230
NM_005670.4(EPM2A):c.*163T>G rs7753694 0.07216
NM_005670.4(EPM2A):c.477-215G>A rs75572793 0.02272
NM_005670.4(EPM2A):c.719-324T>C rs9497376 0.01608
NM_005670.4(EPM2A):c.*1970T>C rs117055625 0.01077
NM_005670.4(EPM2A):c.476+151A>T rs9497394 0.00575
NM_005670.4(EPM2A):c.302-133T>A rs77139794 0.00331
NM_005670.4(EPM2A):c.*172A>G rs375400866 0.00236
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155 0.00223
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00197
NM_005670.4(EPM2A):c.719-4G>A rs145030227 0.00191
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.376A>G (p.Ile126Val) rs150452237 0.00041
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.736C>T (p.Pro246Ser) rs141975071 0.00016
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) rs141919651 0.00015
NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu) rs200641543 0.00014
NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser) rs61757376 0.00012
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val) rs199856913 0.00011
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val) rs144565191 0.00011
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val) rs374043005 0.00011
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys) rs754779408 0.00009
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp) rs376750373 0.00006
NM_005670.4(EPM2A):c.338A>G (p.Asn113Ser) rs753867771 0.00006
NM_005670.4(EPM2A):c.553G>A (p.Gly185Arg) rs796052423 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_005670.4(EPM2A):c.761C>T (p.Ala254Val) rs138798058 0.00003
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr) rs796052430 0.00002
NM_005670.4(EPM2A):c.477-13A>G rs778452911 0.00002
NM_005670.4(EPM2A):c.487A>G (p.Asn163Asp) rs777767978 0.00002
NM_005670.4(EPM2A):c.595G>T (p.Val199Leu) rs367827948 0.00002
NM_005670.4(EPM2A):c.620G>A (p.Arg207His) rs571938170 0.00002
NM_005670.4(EPM2A):c.825G>A (p.Ala275=) rs762115387 0.00002
NM_005670.4(EPM2A):c.323G>A (p.Arg108His) rs202234583 0.00001
NM_005670.4(EPM2A):c.397A>G (p.Thr133Ala) rs773728573 0.00001
NM_005670.4(EPM2A):c.496C>G (p.Leu166Val) rs147645370 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_005670.4(EPM2A):c.600G>T (p.Gln200His) rs142658692 0.00001
NM_005670.4(EPM2A):c.814C>T (p.Arg272Cys) rs765820100 0.00001
NM_005670.4(EPM2A):c.815G>A (p.Arg272His) rs958366800 0.00001
NM_005670.4(EPM2A):c.822C>T (p.Thr274=) rs763812238 0.00001
NM_005670.4(EPM2A):c.824C>T (p.Ala275Val) rs1027738243 0.00001
NM_005670.4(EPM2A):c.927C>G (p.Ala309=) rs1181128980 0.00001
NM_005670.4(EPM2A):c.989G>T (p.Ser330Ile) rs754691516 0.00001
GRCh37/hg19 6q24.3(chr6:145822991-145989428)x1
NM_005670.4(EPM2A):c.*1688AG[1] rs767212465
NM_005670.4(EPM2A):c.*1704G>A
NM_005670.4(EPM2A):c.302-17A>G rs1286332017
NM_005670.4(EPM2A):c.303_476+1del rs1554263318
NM_005670.4(EPM2A):c.379G>A (p.Gly127Arg) rs796052429
NM_005670.4(EPM2A):c.466_469dup (p.Tyr157fs) rs1554263320
NM_005670.4(EPM2A):c.488A>C (p.Asn163Thr) rs141919651
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.547G>A (p.Glu183Lys) rs1582935167
NM_005670.4(EPM2A):c.553G>C (p.Gly185Arg)
NM_005670.4(EPM2A):c.634A>G (p.Met212Val) rs1562424241
NM_005670.4(EPM2A):c.704A>G (p.Asp235Gly) rs1582934244
NM_005670.4(EPM2A):c.706A>G (p.Met236Val) rs906096146
NM_005670.4(EPM2A):c.719-301C>T rs117495022
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) rs1387516050
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs) rs1131691331
NM_005670.4(EPM2A):c.818C>G (p.Ser273Cys) rs796052436
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.847T>A (p.Tyr283Asn) rs2128556112
NM_005670.4(EPM2A):c.878A>T (p.Gln293Leu) rs796052427
NM_005670.4(EPM2A):c.888C>G (p.Leu296=) rs555736319
NM_005670.4(EPM2A):c.917A>T (p.Asp306Val) rs1064797330
NM_005670.4(EPM2A):c.992T>C (p.Leu331Pro) rs796052437

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