ClinVar Miner

List of variants in gene combination CERS1, GDF1 reported as uncertain significance for Progressive myoclonic epilepsy type 8

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Gene type:
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Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_021267.5(CERS1):c.37C>T (p.Pro13Ser) rs868136098 0.00070
NM_021267.5(CERS1):c.787G>A (p.Val263Ile) rs200539084 0.00065
NM_021267.5(CERS1):c.685G>A (p.Gly229Ser) rs373056917 0.00021
NM_021267.5(CERS1):c.257C>T (p.Ala86Val) rs374895377 0.00016
NM_021267.5(CERS1):c.289G>A (p.Ala97Thr) rs374076863 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.575C>T (p.Ser192Phe) rs1009080328 0.00010
NM_021267.5(CERS1):c.493G>A (p.Ala165Thr) rs45524532 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.708T>A (p.His236Gln) rs902153714 0.00007
NM_021267.5(CERS1):c.1018C>G (p.Leu340Val) rs774114834 0.00006
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.437G>A (p.Arg146Gln) rs201005099 0.00004
NM_021267.5(CERS1):c.505A>G (p.Met169Val) rs1230248222 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.419C>T (p.Pro140Leu) rs202201774 0.00003
NM_021267.5(CERS1):c.591-3C>T rs755223903 0.00003
NM_021267.5(CERS1):c.836C>G (p.Pro279Arg) rs778227106 0.00003
NM_021267.5(CERS1):c.250C>A (p.Pro84Thr) rs755371379 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.1030C>G (p.Leu344Val) rs1488082332 0.00001
NM_021267.5(CERS1):c.158C>T (p.Ala53Val) rs2056615240 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.263G>A (p.Arg88Gln) rs370175943 0.00001
NM_021267.5(CERS1):c.305G>A (p.Ser102Asn) rs748527035 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.436C>T (p.Arg146Trp) rs913223329 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+3A>T rs752762244 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.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_021267.5(CERS1):c.779C>T (p.Pro260Leu) rs759055660 0.00001
NM_021267.5(CERS1):c.785A>G (p.Lys262Arg) rs1159373768 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.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_021267.5(CERS1):c.1009G>C (p.Glu337Gln) rs761766419
NM_021267.5(CERS1):c.1011-2A>G rs771873576
NM_021267.5(CERS1):c.102_103insTCG (p.Ala34_Arg35insSer) rs1210737907
NM_021267.5(CERS1):c.113C>A (p.Thr38Lys)
NM_021267.5(CERS1):c.118T>G (p.Cys40Gly)
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.158C>G (p.Ala53Gly) rs2056615240
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.211A>G (p.Thr71Ala) rs1427120932
NM_021267.5(CERS1):c.219_220insGGCTGGACCGCGCTG (p.Leu73_Arg74insGlyTrpThrAlaLeu) rs2056612675
NM_021267.5(CERS1):c.307G>A (p.Ala103Thr)
NM_021267.5(CERS1):c.307G>T (p.Ala103Ser) rs755528875
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.37C>A (p.Pro13Thr)
NM_021267.5(CERS1):c.398C>T (p.Ser133Phe) rs1555707050
NM_021267.5(CERS1):c.425T>A (p.Met142Lys) rs1601173083
NM_021267.5(CERS1):c.440A>G (p.Asp147Gly) rs2056291546
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.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.586T>A (p.Phe196Ile)
NM_021267.5(CERS1):c.590G>A (p.Arg197Gln) rs758556990
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.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.683G>A (p.Arg228His) rs777656031
NM_021267.5(CERS1):c.688G>A (p.Gly230Ser) rs935097145
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.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.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.753-3C>A
NM_021267.5(CERS1):c.805C>T (p.His269Tyr)
NM_021267.5(CERS1):c.81G>C (p.Trp27Cys)
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.851T>C (p.Phe284Ser) rs1568297877
NM_021267.5(CERS1):c.87C>G (p.Ser29Arg) rs1275370347
NM_021267.5(CERS1):c.903C>A (p.Tyr301Ter) rs1601162007
NM_021267.5(CERS1):c.940G>T (p.Val314Leu)
NM_021267.5(CERS1):c.945C>G (p.His315Gln) rs767643146
NM_021267.5(CERS1):c.955G>A (p.Asp319Asn) rs369933386
NM_021267.5(CERS1):c.961C>T (p.Arg321Trp) rs770285954

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