ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease due to muscle beta-enolase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_053013.4(ENO3):c.865+3G>A rs147327991 0.00041
NM_053013.4(ENO3):c.154G>A (p.Gly52Arg) rs757769893 0.00022
NM_053013.4(ENO3):c.115G>A (p.Ala39Thr) rs141103742 0.00021
NM_053013.4(ENO3):c.737T>C (p.Val246Ala) rs200479387 0.00020
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403 0.00019
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu) rs121918404 0.00012
NM_053013.4(ENO3):c.240+8G>A rs768540512 0.00009
NM_053013.4(ENO3):c.934A>C (p.Asn312His) rs145968147 0.00009
NM_053013.4(ENO3):c.1093dup (p.Trp365fs) rs771868807 0.00008
NM_053013.4(ENO3):c.698C>T (p.Ala233Val) rs142982636 0.00008
NM_053013.4(ENO3):c.760A>C (p.Asn254His) rs561878819 0.00007
NM_053013.4(ENO3):c.166C>T (p.Arg56Cys) rs139073445 0.00006
NM_053013.4(ENO3):c.926_929dup (p.Val311fs) rs751624358 0.00006
NM_053013.4(ENO3):c.832G>A (p.Glu278Lys) rs370822982 0.00005
NM_053013.4(ENO3):c.548G>A (p.Arg183His) rs756594079 0.00004
NM_053013.4(ENO3):c.64G>A (p.Val22Met) rs148673221 0.00004
NM_053013.4(ENO3):c.774T>G (p.Asp258Glu) rs763327091 0.00004
NM_053013.4(ENO3):c.806G>A (p.Arg269Gln) rs754758809 0.00004
NM_053013.4(ENO3):c.83A>C (p.Lys28Thr) rs751639631 0.00004
NM_053013.4(ENO3):c.927G>A (p.Ser309=) rs142501820 0.00003
NM_053013.4(ENO3):c.554G>T (p.Gly185Val) rs200324278 0.00002
NM_053013.4(ENO3):c.1046C>T (p.Ser349Leu) rs777965106 0.00001
NM_053013.4(ENO3):c.1180A>C (p.Lys394Gln) rs1322216100 0.00001
NM_053013.4(ENO3):c.1198C>T (p.Arg400Cys) rs534374372 0.00001
NM_053013.4(ENO3):c.159C>A (p.Asp53Glu) rs746259097 0.00001
NM_053013.4(ENO3):c.182G>A (p.Gly61Glu) rs1971599259 0.00001
NM_053013.4(ENO3):c.340G>A (p.Val114Met) rs761323443 0.00001
NM_053013.4(ENO3):c.403G>A (p.Ala135Thr) rs747456400 0.00001
NM_053013.4(ENO3):c.493A>G (p.Met165Val) rs781694580 0.00001
NM_053013.4(ENO3):c.559G>A (p.Glu187Lys) rs772218199 0.00001
NM_053013.4(ENO3):c.716A>G (p.Lys239Arg) rs764872268 0.00001
NM_053013.4(ENO3):c.724A>T (p.Ile242Phe) rs1368067716 0.00001
NM_053013.4(ENO3):c.736G>A (p.Val246Met) rs756256626 0.00001
NM_053013.4(ENO3):c.79G>A (p.Ala27Thr) rs766310955 0.00001
NM_053013.4(ENO3):c.866T>C (p.Val289Ala) rs780704553 0.00001
NM_053013.4(ENO3):c.908C>T (p.Thr303Ile) rs772062073 0.00001
NM_053013.4(ENO3):c.103G>A (p.Val35Met) rs1317890147
NM_053013.4(ENO3):c.1067+1G>A
NM_053013.4(ENO3):c.1068-1G>T
NM_053013.4(ENO3):c.1073A>T (p.Lys358Ile)
NM_053013.4(ENO3):c.1095G>A (p.Trp365Ter)
NM_053013.4(ENO3):c.1115G>A (p.Arg372His)
NM_053013.4(ENO3):c.1123G>A (p.Glu375Lys) rs770822790
NM_053013.4(ENO3):c.1176G>A (p.Gln392=)
NM_053013.4(ENO3):c.1177A>G (p.Ile393Val)
NM_053013.4(ENO3):c.1178T>G (p.Ile393Ser)
NM_053013.4(ENO3):c.1181A>G (p.Lys394Arg)
NM_053013.4(ENO3):c.1194dup (p.Cys399fs) rs757440599
NM_053013.4(ENO3):c.1199G>A (p.Arg400His)
NM_053013.4(ENO3):c.1202C>T (p.Ser401Leu)
NM_053013.4(ENO3):c.1221C>A (p.Tyr407Ter)
NM_053013.4(ENO3):c.1233G>A (p.Met411Ile)
NM_053013.4(ENO3):c.1235+5A>G
NM_053013.4(ENO3):c.1236G>C (p.Arg412Ser)
NM_053013.4(ENO3):c.1240G>A (p.Glu414Lys)
NM_053013.4(ENO3):c.1257C>A (p.Asp419Glu)
NM_053013.4(ENO3):c.1260G>C (p.Lys420Asn)
NM_053013.4(ENO3):c.1277G>A (p.Arg426His)
NM_053013.4(ENO3):c.1286G>A (p.Arg429His)
NM_053013.4(ENO3):c.1291C>A (p.Pro431Thr) rs1821447881
NM_053013.4(ENO3):c.1296G>C (p.Lys432Asn)
NM_053013.4(ENO3):c.1303T>C (p.Ter435Arg)
NM_053013.4(ENO3):c.131A>G (p.Tyr44Cys)
NM_053013.4(ENO3):c.142G>A (p.Glu48Lys)
NM_053013.4(ENO3):c.151G>T (p.Asp51Tyr)
NM_053013.4(ENO3):c.15A>T (p.Lys5Asn)
NM_053013.4(ENO3):c.170A>G (p.Tyr57Cys)
NM_053013.4(ENO3):c.17del (p.Ile6fs)
NM_053013.4(ENO3):c.181+6_181+8del
NM_053013.4(ENO3):c.209A>G (p.Asn70Ser)
NM_053013.4(ENO3):c.211_212delinsGG (p.Asn71Gly)
NM_053013.4(ENO3):c.22G>A (p.Ala8Thr)
NM_053013.4(ENO3):c.235C>T (p.Gln79Ter)
NM_053013.4(ENO3):c.240G>A (p.Lys80=) rs980318534
NM_053013.4(ENO3):c.262G>T (p.Glu88Ter)
NM_053013.4(ENO3):c.296G>A (p.Gly99Glu) rs1597699325
NM_053013.4(ENO3):c.298A>T (p.Thr100Ser)
NM_053013.4(ENO3):c.310+1G>C rs113298706
NM_053013.4(ENO3):c.310+3G>A
NM_053013.4(ENO3):c.326A>G (p.Asn109Ser) rs143749502
NM_053013.4(ENO3):c.352G>A (p.Val118Met)
NM_053013.4(ENO3):c.360G>C (p.Lys120Asn)
NM_053013.4(ENO3):c.378G>C (p.Lys126Asn)
NM_053013.4(ENO3):c.382dup (p.Val128fs)
NM_053013.4(ENO3):c.383T>A (p.Val128Asp)
NM_053013.4(ENO3):c.394C>T (p.Arg132Cys)
NM_053013.4(ENO3):c.3G>A (p.Met1Ile)
NM_053013.4(ENO3):c.404C>T (p.Ala135Val)
NM_053013.4(ENO3):c.412G>A (p.Ala138Thr) rs202030238
NM_053013.4(ENO3):c.412G>C (p.Ala138Pro)
NM_053013.4(ENO3):c.444+1G>T
NM_053013.4(ENO3):c.444+5G>A
NM_053013.4(ENO3):c.451A>G (p.Asn151Asp)
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) rs560867570
NM_053013.4(ENO3):c.469T>G (p.Ser157Ala)
NM_053013.4(ENO3):c.475G>C (p.Ala159Pro) rs1971675855
NM_053013.4(ENO3):c.483C>A (p.Asn161Lys)
NM_053013.4(ENO3):c.496C>G (p.Gln166Glu) rs1179493512
NM_053013.4(ENO3):c.49A>G (p.Asn17Asp) rs1971550702
NM_053013.4(ENO3):c.518T>G (p.Val173Gly) rs1597702371
NM_053013.4(ENO3):c.524C>T (p.Ala175Val)
NM_053013.4(ENO3):c.544A>G (p.Met182Val) rs1401088566
NM_053013.4(ENO3):c.547C>T (p.Arg183Cys)
NM_053013.4(ENO3):c.548G>T (p.Arg183Leu)
NM_053013.4(ENO3):c.556G>A (p.Ala186Thr)
NM_053013.4(ENO3):c.563T>C (p.Val188Ala)
NM_053013.4(ENO3):c.56C>T (p.Thr19Met)
NM_053013.4(ENO3):c.573C>A (p.His191Gln)
NM_053013.4(ENO3):c.613A>G (p.Thr205Ala)
NM_053013.4(ENO3):c.623G>C (p.Gly208Ala)
NM_053013.4(ENO3):c.639C>A (p.Phe213Leu) rs373847361
NM_053013.4(ENO3):c.662A>G (p.Asn221Ser)
NM_053013.4(ENO3):c.692_707dup (p.Asp238fs) rs757486701
NM_053013.4(ENO3):c.710C>G (p.Pro237Arg)
NM_053013.4(ENO3):c.710del (p.Pro237fs) rs778664924
NM_053013.4(ENO3):c.758G>A (p.Arg253His)
NM_053013.4(ENO3):c.771C>G (p.Tyr257Ter)
NM_053013.4(ENO3):c.772G>A (p.Asp258Asn) rs772780015
NM_053013.4(ENO3):c.772G>T (p.Asp258Tyr)
NM_053013.4(ENO3):c.77C>A (p.Thr26Lys) rs199677913
NM_053013.4(ENO3):c.77C>T (p.Thr26Met) rs199677913
NM_053013.4(ENO3):c.802G>A (p.Ala268Thr)
NM_053013.4(ENO3):c.829G>A (p.Gly277Arg)
NM_053013.4(ENO3):c.846C>G (p.Ser282Arg)
NM_053013.4(ENO3):c.85+4A>T
NM_053013.4(ENO3):c.850A>C (p.Ile284Leu)
NM_053013.4(ENO3):c.877G>A (p.Glu293Lys)
NM_053013.4(ENO3):c.88C>T (p.Arg30Ter)
NM_053013.4(ENO3):c.8T>C (p.Met3Thr)
NM_053013.4(ENO3):c.910del (p.Trp304fs)
NM_053013.4(ENO3):c.914C>T (p.Thr305Ile)
NM_053013.4(ENO3):c.926C>T (p.Ser309Leu)
NM_053013.4(ENO3):c.92T>A (p.Phe31Tyr)
NM_053013.4(ENO3):c.931G>T (p.Val311Leu)
NM_053013.4(ENO3):c.94C>T (p.Arg32Ter)
NM_053013.4(ENO3):c.95G>A (p.Arg32Gln)

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