ClinVar Miner

List of variants reported as likely benign for Progressive myoclonic epilepsy type 8 by Labcorp Genetics (formerly Invitae), Labcorp

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Minimum conflict level:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_021267.5(CERS1):c.16C>A (p.Pro6Thr) rs1041161328 0.00069
NM_021267.5(CERS1):c.898C>T (p.Leu300=) rs373928623 0.00035
NM_021267.5(CERS1):c.178C>T (p.Leu60=) rs760185006 0.00028
NM_021267.5(CERS1):c.393A>G (p.Pro131=) rs577485199 0.00020
NM_021267.5(CERS1):c.912G>A (p.Ala304=) rs369177504 0.00016
NM_021267.5(CERS1):c.300C>T (p.Pro100=) rs376834189 0.00015
NM_021267.5(CERS1):c.590+14C>T rs371448103 0.00014
NM_021267.5(CERS1):c.519C>A (p.Arg173=) rs575712132 0.00013
NM_021267.5(CERS1):c.942G>A (p.Val314=) rs373503454 0.00013
NM_021267.5(CERS1):c.174C>G (p.Pro58=) rs992534143 0.00010
NM_021267.5(CERS1):c.663C>T (p.Leu221=) rs535134210 0.00010
NM_021267.5(CERS1):c.549C>T (p.His183=) rs200024180 0.00009
NM_021267.5(CERS1):c.12G>A (p.Ala4=) rs1459126597 0.00007
NM_021267.5(CERS1):c.582C>T (p.Tyr194=) rs779941388 0.00007
NM_021267.5(CERS1):c.752+9T>C rs369684023 0.00006
NM_021267.5(CERS1):c.258G>A (p.Ala86=) rs1038592004 0.00005
NM_021267.5(CERS1):c.66A>G (p.Leu22=) rs1185015299 0.00005
NM_021267.5(CERS1):c.1010+19G>A rs776038644 0.00004
NM_021267.5(CERS1):c.369C>T (p.Thr123=) rs560072286 0.00004
NM_021267.5(CERS1):c.591-6C>T rs778912491 0.00004
NM_021267.5(CERS1):c.410-10C>T rs377152682 0.00003
NM_021267.5(CERS1):c.417G>A (p.Thr139=) rs372257242 0.00003
NM_021267.5(CERS1):c.590+9A>G rs200695801 0.00003
NM_021267.5(CERS1):c.768C>A (p.Leu256=) rs764610749 0.00003
NM_021267.5(CERS1):c.1010+18C>T rs759989196 0.00002
NM_021267.5(CERS1):c.18C>G (p.Pro6=) rs1008352652 0.00002
NM_021267.5(CERS1):c.294G>A (p.Lys98=) rs186889230 0.00002
NM_021267.5(CERS1):c.409+7G>T rs368913904 0.00002
NM_021267.5(CERS1):c.410-17G>T rs1050558355 0.00002
NM_021267.5(CERS1):c.1008C>T (p.Ala336=) rs371463042 0.00001
NM_021267.5(CERS1):c.1011-4C>T rs2055951287 0.00001
NM_021267.5(CERS1):c.1032G>A (p.Leu344=) rs1015891977 0.00001
NM_021267.5(CERS1):c.180G>A (p.Leu60=) rs1231005112 0.00001
NM_021267.5(CERS1):c.252C>T (p.Pro84=) rs765754803 0.00001
NM_021267.5(CERS1):c.273C>G (p.Leu91=) rs768644742 0.00001
NM_021267.5(CERS1):c.306C>T (p.Ser102=) rs779359438 0.00001
NM_021267.5(CERS1):c.432G>A (p.Val144=) rs1243530086 0.00001
NM_021267.5(CERS1):c.477T>C (p.Tyr159=) rs1426719277 0.00001
NM_021267.5(CERS1):c.498G>A (p.Thr166=) rs777172267 0.00001
NM_021267.5(CERS1):c.522G>A (p.Lys174=) rs778674727 0.00001
NM_021267.5(CERS1):c.528G>A (p.Ser176=) rs756017318 0.00001
NM_021267.5(CERS1):c.558T>C (p.Thr186=) rs370638755 0.00001
NM_021267.5(CERS1):c.590+15G>A rs760913694 0.00001
NM_021267.5(CERS1):c.591-15C>G rs780029381 0.00001
NM_021267.5(CERS1):c.627C>T (p.His209=) rs774025010 0.00001
NM_021267.5(CERS1):c.684C>T (p.Arg228=) rs761091051 0.00001
NM_021267.5(CERS1):c.732C>T (p.Cys244=) rs774860884 0.00001
NM_021267.5(CERS1):c.780G>A (p.Pro260=) rs765999204 0.00001
NM_021267.5(CERS1):c.798C>T (p.Ala266=) rs978085666 0.00001
NM_021267.5(CERS1):c.900+8G>A rs768626142 0.00001
NM_021267.5(CERS1):c.901-4G>A rs755673028 0.00001
NM_021267.5(CERS1):c.901-6T>A rs1470403378 0.00001
NM_021267.5(CERS1):c.906C>T (p.Ile302=) rs377364343 0.00001
NM_021267.5(CERS1):c.945C>T (p.His315=) rs767643146 0.00001
NM_021267.5(CERS1):c.*773G>A rs1415775845
NM_021267.5(CERS1):c.1010+10G>A
NM_021267.5(CERS1):c.1010+7G>A
NM_021267.5(CERS1):c.1011-16C>T rs2145990522
NM_021267.5(CERS1):c.1011-4C>G
NM_021267.5(CERS1):c.1011-5C>T
NM_021267.5(CERS1):c.1011-8del rs1421634945
NM_021267.5(CERS1):c.102G>C (p.Ala34=)
NM_021267.5(CERS1):c.1035G>A (p.Val345=) rs749025315
NM_021267.5(CERS1):c.123C>G (p.Gly41=) rs2146084585
NM_021267.5(CERS1):c.156C>T (p.His52=) rs2146084390
NM_021267.5(CERS1):c.15G>T (p.Gly5=)
NM_021267.5(CERS1):c.171G>T (p.Pro57=) rs1165273715
NM_021267.5(CERS1):c.192G>T (p.Ala64=)
NM_021267.5(CERS1):c.195C>T (p.Leu65=)
NM_021267.5(CERS1):c.198C>G (p.Gly66=)
NM_021267.5(CERS1):c.222C>G (p.Arg74=) rs1601197228
NM_021267.5(CERS1):c.234T>A (p.Thr78=)
NM_021267.5(CERS1):c.249+12C>T
NM_021267.5(CERS1):c.249+14G>T
NM_021267.5(CERS1):c.249+19C>T
NM_021267.5(CERS1):c.249+7G>A
NM_021267.5(CERS1):c.250-15T>C
NM_021267.5(CERS1):c.250-20G>T
NM_021267.5(CERS1):c.250-4A>G
NM_021267.5(CERS1):c.264G>C (p.Arg88=) rs377215717
NM_021267.5(CERS1):c.288C>T (p.Ala96=)
NM_021267.5(CERS1):c.30G>A (p.Pro10=)
NM_021267.5(CERS1):c.375C>T (p.Tyr125=)
NM_021267.5(CERS1):c.387T>C (p.His129=) rs2146074202
NM_021267.5(CERS1):c.39C>G (p.Pro13=)
NM_021267.5(CERS1):c.402C>A (p.Val134=) rs1203214467
NM_021267.5(CERS1):c.402C>T (p.Val134=)
NM_021267.5(CERS1):c.409+9C>T
NM_021267.5(CERS1):c.410-20_410-19del rs753725560
NM_021267.5(CERS1):c.420G>A (p.Pro140=)
NM_021267.5(CERS1):c.420G>C (p.Pro140=) rs777354771
NM_021267.5(CERS1):c.429A>C (p.Ala143=) rs200107216
NM_021267.5(CERS1):c.45C>T (p.Pro15=) rs2146085011
NM_021267.5(CERS1):c.531G>A (p.Val177=) rs542208205
NM_021267.5(CERS1):c.534C>G (p.Val178=) rs1601172670
NM_021267.5(CERS1):c.540G>T (p.Leu180=) rs763116442
NM_021267.5(CERS1):c.567C>T (p.Leu189=) rs2146032932
NM_021267.5(CERS1):c.570C>T (p.Ile190=) rs778764321
NM_021267.5(CERS1):c.579C>T (p.Ser193=)
NM_021267.5(CERS1):c.590+11G>C
NM_021267.5(CERS1):c.590+14C>G
NM_021267.5(CERS1):c.591-10G>T
NM_021267.5(CERS1):c.591-15C>T rs780029381
NM_021267.5(CERS1):c.591-8T>A
NM_021267.5(CERS1):c.594C>T (p.Tyr198=)
NM_021267.5(CERS1):c.630T>C (p.Asp210=)
NM_021267.5(CERS1):c.66A>C (p.Leu22=) rs1185015299
NM_021267.5(CERS1):c.687C>T (p.Gly229=)
NM_021267.5(CERS1):c.6G>T (p.Ala2=)
NM_021267.5(CERS1):c.702G>A (p.Arg234=) rs2146018471
NM_021267.5(CERS1):c.717A>G (p.Ala239=) rs2056171735
NM_021267.5(CERS1):c.750C>T (p.Ser250=) rs2146018260
NM_021267.5(CERS1):c.753-10C>G
NM_021267.5(CERS1):c.753-17G>A
NM_021267.5(CERS1):c.753-18T>G
NM_021267.5(CERS1):c.753-4G>A
NM_021267.5(CERS1):c.780G>T (p.Pro260=) rs765999204
NM_021267.5(CERS1):c.78C>T (p.Gly26=)
NM_021267.5(CERS1):c.790C>T (p.Leu264=) rs2146013191
NM_021267.5(CERS1):c.816G>A (p.Leu272=) rs2146013036
NM_021267.5(CERS1):c.834C>T (p.Ile278=) rs781327266
NM_021267.5(CERS1):c.840C>T (p.Phe280=)
NM_021267.5(CERS1):c.846C>T (p.Phe282=)
NM_021267.5(CERS1):c.858G>A (p.Ala286=)
NM_021267.5(CERS1):c.865C>T (p.Leu289=)
NM_021267.5(CERS1):c.873C>G (p.Leu291=) rs750237588
NM_021267.5(CERS1):c.876C>G (p.Thr292=) rs1047604923
NM_021267.5(CERS1):c.900+11C>T
NM_021267.5(CERS1):c.900+13C>T
NM_021267.5(CERS1):c.900+14G>A
NM_021267.5(CERS1):c.900+20C>T rs1296690347
NM_021267.5(CERS1):c.900+7C>T
NM_021267.5(CERS1):c.901-17C>G
NM_021267.5(CERS1):c.901-8T>C
NM_021267.5(CERS1):c.924G>A (p.Lys308=)
NM_021267.5(CERS1):c.951G>A (p.Leu317=)
NM_021267.5(CERS1):c.958C>T (p.Leu320=) rs1260273077
NM_021267.5(CERS1):c.978C>A (p.Ala326=) rs530273200
NM_021267.5(CERS1):c.978C>T (p.Ala326=)
NM_021267.5(CERS1):c.984C>G (p.Ala328=)
NM_021267.5(CERS1):c.990C>T (p.Ser330=) rs865981359
NM_021267.5(CERS1):c.996G>A (p.Lys332=)
NM_021267.5(CERS1):c.999C>T (p.Pro333=) rs2146010687
NM_021267.5(CERS1):c.9G>A (p.Ala3=) rs1310539014

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