ClinVar Miner

List of variants in gene CERS1, GDF1 studied for Progressive myoclonic epilepsy type 8

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 286
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HGVS dbSNP gnomAD frequency
NM_001492.6(GDF1):c.-1107C>G rs3746263 0.71463
NM_001492.6(GDF1):c.-1089T>C rs113536478 0.25589
NM_001492.6(GDF1):c.-422-11C>T rs2075762 0.09802
NM_021267.5(CERS1):c.492C>T (p.Tyr164=) rs45601540 0.00715
NM_021267.5(CERS1):c.450C>T (p.Ala150=) rs201106410 0.00126
NM_021267.5(CERS1):c.37C>T (p.Pro13Ser) rs868136098 0.00070
NM_021267.5(CERS1):c.16C>A (p.Pro6Thr) rs1041161328 0.00069
NM_021267.5(CERS1):c.787G>A (p.Val263Ile) rs200539084 0.00065
NM_001492.6(GDF1):c.-894A>G rs200107216 0.00064
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_001492.6(GDF1):c.485G>A (p.Gly162Asp) rs121434424 0.00021
NM_021267.5(CERS1):c.685G>A (p.Gly229Ser) rs373056917 0.00021
NM_021267.5(CERS1):c.393A>G (p.Pro131=) rs577485199 0.00020
NM_021267.5(CERS1):c.257C>T (p.Ala86Val) rs374895377 0.00016
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.289G>A (p.Ala97Thr) rs374076863 0.00013
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.911C>T (p.Ala304Val) rs373927986 0.00012
NM_021267.5(CERS1):c.95C>T (p.Ala32Val) rs1387898936 0.00011
NM_021267.5(CERS1):c.174C>G (p.Pro58=) rs992534143 0.00010
NM_021267.5(CERS1):c.575C>T (p.Ser192Phe) rs1009080328 0.00010
NM_021267.5(CERS1):c.663C>T (p.Leu221=) rs535134210 0.00010
NM_021267.5(CERS1):c.493G>A (p.Ala165Thr) rs45524532 0.00009
NM_021267.5(CERS1):c.549C>T (p.His183=) rs200024180 0.00009
NM_021267.5(CERS1):c.164T>A (p.Leu55Gln) rs918114133 0.00008
NM_021267.5(CERS1):c.857C>T (p.Ala286Val) rs559340743 0.00008
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.708T>A (p.His236Gln) rs902153714 0.00007
NM_021267.5(CERS1):c.1018C>G (p.Leu340Val) rs774114834 0.00006
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.262C>T (p.Arg88Trp) rs202181919 0.00004
NM_021267.5(CERS1):c.293A>G (p.Lys98Arg) rs770877225 0.00004
NM_021267.5(CERS1):c.349G>T (p.Ala117Ser) rs199956210 0.00004
NM_021267.5(CERS1):c.369C>T (p.Thr123=) rs560072286 0.00004
NM_021267.5(CERS1):c.437G>A (p.Arg146Gln) rs201005099 0.00004
NM_021267.5(CERS1):c.505A>G (p.Met169Val) rs1230248222 0.00004
NM_021267.5(CERS1):c.591-6C>T rs778912491 0.00004
NM_021267.5(CERS1):c.682C>T (p.Arg228Cys) rs746909154 0.00004
NM_021267.5(CERS1):c.797C>T (p.Ala266Val) rs1245703626 0.00004
NM_021267.5(CERS1):c.817C>T (p.Arg273Cys) rs772007237 0.00004
NM_021267.5(CERS1):c.821C>T (p.Thr274Met) rs769809173 0.00004
NM_021267.5(CERS1):c.989G>T (p.Ser330Ile) rs376643753 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.419C>T (p.Pro140Leu) rs202201774 0.00003
NM_021267.5(CERS1):c.590+9A>G rs200695801 0.00003
NM_021267.5(CERS1):c.591-3C>T rs755223903 0.00003
NM_021267.5(CERS1):c.768C>A (p.Leu256=) rs764610749 0.00003
NM_021267.5(CERS1):c.836C>G (p.Pro279Arg) rs778227106 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.250C>A (p.Pro84Thr) rs755371379 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.443T>C (p.Ile148Thr) rs773594278 0.00002
NM_021267.5(CERS1):c.476A>G (p.Tyr159Cys) rs764228779 0.00002
NM_021267.5(CERS1):c.572T>C (p.Val191Ala) rs749102523 0.00002
NM_021267.5(CERS1):c.82G>A (p.Gly28Ser) rs1370577039 0.00002
NM_021267.5(CERS1):c.901-3C>A rs1464119106 0.00002
NM_021267.5(CERS1):c.962G>A (p.Arg321Gln) rs745387497 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.1030C>G (p.Leu344Val) rs1488082332 0.00001
NM_021267.5(CERS1):c.1032G>A (p.Leu344=) rs1015891977 0.00001
NM_021267.5(CERS1):c.158C>T (p.Ala53Val) rs2056615240 0.00001
NM_021267.5(CERS1):c.180G>A (p.Leu60=) rs1231005112 0.00001
NM_021267.5(CERS1):c.23C>G (p.Ala8Gly) rs1568309719 0.00001
NM_021267.5(CERS1):c.244T>C (p.Phe82Leu) rs977068016 0.00001
NM_021267.5(CERS1):c.252C>T (p.Pro84=) rs765754803 0.00001
NM_021267.5(CERS1):c.263G>A (p.Arg88Gln) rs370175943 0.00001
NM_021267.5(CERS1):c.273C>G (p.Leu91=) rs768644742 0.00001
NM_021267.5(CERS1):c.305G>A (p.Ser102Asn) rs748527035 0.00001
NM_021267.5(CERS1):c.306C>T (p.Ser102=) rs779359438 0.00001
NM_021267.5(CERS1):c.408C>T (p.Tyr136=) rs779362030 0.00001
NM_021267.5(CERS1):c.410-6C>T rs932231463 0.00001
NM_021267.5(CERS1):c.432G>A (p.Val144=) rs1243530086 0.00001
NM_021267.5(CERS1):c.436C>T (p.Arg146Trp) rs913223329 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.559C>G (p.Leu187Val) rs772627907 0.00001
NM_021267.5(CERS1):c.571G>A (p.Val191Ile) rs768421620 0.00001
NM_021267.5(CERS1):c.590+15G>A rs760913694 0.00001
NM_021267.5(CERS1):c.590+3A>T rs752762244 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.689G>C (p.Gly230Ala) rs755440386 0.00001
NM_021267.5(CERS1):c.68T>C (p.Val23Ala) rs1359065344 0.00001
NM_021267.5(CERS1):c.698A>G (p.His233Arg) rs2056172422 0.00001
NM_021267.5(CERS1):c.732C>T (p.Cys244=) rs774860884 0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_021267.5(CERS1):c.779C>T (p.Pro260Leu) rs759055660 0.00001
NM_021267.5(CERS1):c.780G>A (p.Pro260=) rs765999204 0.00001
NM_021267.5(CERS1):c.785A>G (p.Lys262Arg) rs1159373768 0.00001
NM_021267.5(CERS1):c.798C>T (p.Ala266=) rs978085666 0.00001
NM_021267.5(CERS1):c.818G>A (p.Arg273His) rs775672669 0.00001
NM_021267.5(CERS1):c.830A>C (p.Asp277Ala) rs1283919339 0.00001
NM_021267.5(CERS1):c.845T>A (p.Phe282Tyr) rs775383045 0.00001
NM_021267.5(CERS1):c.89C>T (p.Ala30Val) rs1045601115 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.974C>T (p.Thr325Ile) rs1696944643 0.00001
NC_000019.9:g.(?_19004205)_(19006901_?)dup
NM_001492.6(GDF1):c.1044CTT[1] (p.Phe350del) rs1232905914
NM_001492.6(GDF1):c.456GGC[6] (p.Ala158_Pro159insAla) rs571387097
NM_021267.5(CERS1):c.*773G>A rs1415775845
NM_021267.5(CERS1):c.1009G>C (p.Glu337Gln) rs761766419
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.1011-2A>G rs771873576
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.102_103insTCG (p.Ala34_Arg35insSer) rs1210737907
NM_021267.5(CERS1):c.1035G>A (p.Val345=) rs749025315
NM_021267.5(CERS1):c.113C>A (p.Thr38Lys)
NM_021267.5(CERS1):c.118T>G (p.Cys40Gly)
NM_021267.5(CERS1):c.123C>G (p.Gly41=) rs2146084585
NM_021267.5(CERS1):c.133G>C (p.Ala45Pro) rs2146084497
NM_021267.5(CERS1):c.148G>C (p.Ala50Pro)
NM_021267.5(CERS1):c.148G>T (p.Ala50Ser)
NM_021267.5(CERS1):c.156C>T (p.His52=) rs2146084390
NM_021267.5(CERS1):c.158C>G (p.Ala53Gly) rs2056615240
NM_021267.5(CERS1):c.15G>T (p.Gly5=)
NM_021267.5(CERS1):c.171G>T (p.Pro57=) rs1165273715
NM_021267.5(CERS1):c.173C>T (p.Pro58Leu) rs2056614649
NM_021267.5(CERS1):c.177G>C (p.Glu59Asp) rs2056614444
NM_021267.5(CERS1):c.178C>G (p.Leu60Val) rs760185006
NM_021267.5(CERS1):c.17C>G (p.Pro6Arg)
NM_021267.5(CERS1):c.181C>A (p.Leu61Met) rs1330389032
NM_021267.5(CERS1):c.182T>C (p.Leu61Pro) rs2146084156
NM_021267.5(CERS1):c.18_29del (p.3AAGP[1]) rs1026938291
NM_021267.5(CERS1):c.18_29dup (p.Pro10_Thr11insAlaAlaGlyPro) rs1026938291
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.211A>G (p.Thr71Ala) rs1427120932
NM_021267.5(CERS1):c.219_220insGGCTGGACCGCGCTG (p.Leu73_Arg74insGlyTrpThrAlaLeu) rs2056612675
NM_021267.5(CERS1):c.222C>G (p.Arg74=) rs1601197228
NM_021267.5(CERS1):c.234T>A (p.Thr78=)
NM_021267.5(CERS1):c.248G>A (p.Arg83Gln) rs1601197103
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.274C>T (p.Gln92Ter) rs561672108
NM_021267.5(CERS1):c.288C>T (p.Ala96=)
NM_021267.5(CERS1):c.307G>A (p.Ala103Thr)
NM_021267.5(CERS1):c.307G>T (p.Ala103Ser) rs755528875
NM_021267.5(CERS1):c.30G>A (p.Pro10=)
NM_021267.5(CERS1):c.30_38del (p.Thr11_Pro13del) rs2056619121
NM_021267.5(CERS1):c.312del (p.Ala103_Trp104insTer) rs2146074561
NM_021267.5(CERS1):c.319C>G (p.Leu107Val) rs1039358825
NM_021267.5(CERS1):c.350C>T (p.Ala117Val) rs2146074403
NM_021267.5(CERS1):c.375C>T (p.Tyr125=)
NM_021267.5(CERS1):c.37C>A (p.Pro13Thr)
NM_021267.5(CERS1):c.387T>C (p.His129=) rs2146074202
NM_021267.5(CERS1):c.398C>T (p.Ser133Phe) rs1555707050
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.425T>A (p.Met142Lys) rs1601173083
NM_021267.5(CERS1):c.429A>C (p.Ala143=) rs200107216
NM_021267.5(CERS1):c.440A>G (p.Asp147Gly) rs2056291546
NM_021267.5(CERS1):c.45C>T (p.Pro15=) rs2146085011
NM_021267.5(CERS1):c.46A>G (p.Met16Val) rs2146085001
NM_021267.5(CERS1):c.470G>A (p.Ser157Asn) rs2146033428
NM_021267.5(CERS1):c.506T>C (p.Met169Thr)
NM_021267.5(CERS1):c.50C>T (p.Pro17Leu) rs2056618624
NM_021267.5(CERS1):c.511A>G (p.Thr171Ala) rs1295251261
NM_021267.5(CERS1):c.518G>A (p.Arg173His)
NM_021267.5(CERS1):c.527C>G (p.Ser176Trp) rs555889038
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.549C>G (p.His183Gln) rs200024180
NM_021267.5(CERS1):c.550G>A (p.Val184Met) rs374308521
NM_021267.5(CERS1):c.550G>T (p.Val184Leu) rs374308521
NM_021267.5(CERS1):c.557C>T (p.Thr186Ile) rs1601172583
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.586T>A (p.Phe196Ile)
NM_021267.5(CERS1):c.590+11G>C
NM_021267.5(CERS1):c.590+14C>G
NM_021267.5(CERS1):c.590G>A (p.Arg197Gln) rs758556990
NM_021267.5(CERS1):c.591-10G>T
NM_021267.5(CERS1):c.591-15C>T rs780029381
NM_021267.5(CERS1):c.591-3del
NM_021267.5(CERS1):c.591-8T>A
NM_021267.5(CERS1):c.594C>T (p.Tyr198=)
NM_021267.5(CERS1):c.5CGG[4] (p.Ala4_Gly5insAla) rs996708246
NM_021267.5(CERS1):c.608T>C (p.Ile203Thr) rs1314252199
NM_021267.5(CERS1):c.610C>G (p.Leu204Val) rs866186539
NM_021267.5(CERS1):c.630T>C (p.Asp210=)
NM_021267.5(CERS1):c.634A>G (p.Ser212Gly)
NM_021267.5(CERS1):c.637G>A (p.Asp213Asn) rs2146018809
NM_021267.5(CERS1):c.667A>G (p.Ile223Val)
NM_021267.5(CERS1):c.66A>C (p.Leu22=) rs1185015299
NM_021267.5(CERS1):c.683G>A (p.Arg228His) rs777656031
NM_021267.5(CERS1):c.687C>T (p.Gly229=)
NM_021267.5(CERS1):c.688G>A (p.Gly230Ser) rs935097145
NM_021267.5(CERS1):c.6G>T (p.Ala2=)
NM_021267.5(CERS1):c.700C>G (p.Arg234Gly) rs767727206
NM_021267.5(CERS1):c.701G>A (p.Arg234Gln) rs369297915
NM_021267.5(CERS1):c.701G>T (p.Arg234Leu) rs369297915
NM_021267.5(CERS1):c.702G>A (p.Arg234=) rs2146018471
NM_021267.5(CERS1):c.709G>A (p.Ala237Thr) rs368637790
NM_021267.5(CERS1):c.709G>T (p.Ala237Ser) rs368637790
NM_021267.5(CERS1):c.715_716delinsTT (p.Ala239Leu) rs2146018425
NM_021267.5(CERS1):c.717A>G (p.Ala239=) rs2056171735
NM_021267.5(CERS1):c.71_72delinsCC (p.Gln24Pro) rs2146084865
NM_021267.5(CERS1):c.725T>C (p.Leu242Ser) rs1601165243
NM_021267.5(CERS1):c.738C>G (p.Ser246Arg) rs2056170861
NM_021267.5(CERS1):c.742G>A (p.Gly248Ser) rs925482243
NM_021267.5(CERS1):c.74G>A (p.Arg25His) rs2056617983
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.753-3C>A
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.805C>T (p.His269Tyr)
NM_021267.5(CERS1):c.816G>A (p.Leu272=) rs2146013036
NM_021267.5(CERS1):c.81G>C (p.Trp27Cys)
NM_021267.5(CERS1):c.834C>T (p.Ile278=) rs781327266
NM_021267.5(CERS1):c.835C>A (p.Pro279Thr) rs368072339
NM_021267.5(CERS1):c.835C>G (p.Pro279Ala) rs368072339
NM_021267.5(CERS1):c.840C>T (p.Phe280=)
NM_021267.5(CERS1):c.846C>T (p.Phe282=)
NM_021267.5(CERS1):c.851T>C (p.Phe284Ser) rs1568297877
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.87C>G (p.Ser29Arg) rs1275370347
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.903C>A (p.Tyr301Ter) rs1601162007
NM_021267.5(CERS1):c.924G>A (p.Lys308=)
NM_021267.5(CERS1):c.940G>T (p.Val314Leu)
NM_021267.5(CERS1):c.945C>G (p.His315Gln) rs767643146
NM_021267.5(CERS1):c.951G>A (p.Leu317=)
NM_021267.5(CERS1):c.955G>A (p.Asp319Asn) rs369933386
NM_021267.5(CERS1):c.958C>T (p.Leu320=) rs1260273077
NM_021267.5(CERS1):c.961C>T (p.Arg321Trp) rs770285954
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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