ClinVar Miner

List of variants reported as uncertain significance for encephalopathy, acute, infection-induced, susceptibility to, 4 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996 0.00038
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) rs144760921 0.00028
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) rs201508063 0.00020
NM_000098.3(CPT2):c.1016C>T (p.Ser339Phe) rs375109382 0.00013
NM_000098.3(CPT2):c.-282C>T rs886046402 0.00009
NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln) rs199996641 0.00006
NM_000098.3(CPT2):c.853G>A (p.Glu285Lys) rs200906458 0.00006
NM_000098.3(CPT2):c.921G>A (p.Met307Ile) rs745698305 0.00005
NM_000098.3(CPT2):c.1189G>A (p.Val397Ile) rs201745292 0.00004
NM_000098.3(CPT2):c.1397T>C (p.Val466Ala) rs200399018 0.00004
NM_000098.3(CPT2):c.379G>A (p.Val127Ile) rs199545795 0.00004
NM_000098.3(CPT2):c.65G>A (p.Ser22Asn) rs1057287341 0.00004
NM_000098.3(CPT2):c.1429C>T (p.Arg477Trp) rs770734793 0.00003
NM_000098.3(CPT2):c.611C>T (p.Ala204Val) rs867555821 0.00003
NM_000098.3(CPT2):c.930C>T (p.Gly310=) rs371971257 0.00003
NM_000098.3(CPT2):c.1448T>C (p.Val483Ala) rs1324631593 0.00002
NM_000098.3(CPT2):c.1886C>T (p.Pro629Leu) rs767530116 0.00002
NM_000098.3(CPT2):c.1124G>T (p.Gly375Val) rs772843417 0.00001
NM_000098.3(CPT2):c.1145G>C (p.Arg382Thr) rs515726176 0.00001
NM_000098.3(CPT2):c.1376A>T (p.Gln459Leu) rs1335909876 0.00001
NM_000098.3(CPT2):c.1493G>A (p.Arg498His) rs776645157 0.00001
NM_000098.3(CPT2):c.1603T>C (p.Cys535Arg) rs1220461521 0.00001
NM_000098.3(CPT2):c.1766C>T (p.Thr589Met) rs756414686 0.00001
NM_000098.3(CPT2):c.1850A>G (p.His617Arg) rs1359602721 0.00001
NM_000098.3(CPT2):c.1900C>T (p.Arg634Trp) rs1352360897 0.00001
NM_000098.3(CPT2):c.626C>T (p.Ala209Val) rs773788921 0.00001
NM_000098.3(CPT2):c.656G>A (p.Arg219Gln) rs920941550 0.00001
NM_000098.3(CPT2):c.673C>T (p.Arg225Cys) rs759733220 0.00001
NM_000098.3(CPT2):c.674G>A (p.Arg225His) rs794727616 0.00001
NM_000098.3(CPT2):c.789T>G (p.Ile263Met) rs1557717394 0.00001
NM_000098.3(CPT2):c.833C>T (p.Ser278Leu) rs758337938 0.00001
NM_000098.3(CPT2):c.1313T>C (p.Met438Thr) rs377616144
NM_000098.3(CPT2):c.1424T>A (p.Phe475Tyr) rs992811256
NM_000098.3(CPT2):c.164C>G (p.Pro55Arg) rs2100259793
NM_000098.3(CPT2):c.1954G>A (p.Glu652Lys) rs766154734
NM_000098.3(CPT2):c.1972A>C (p.Ser658Arg) rs1553170037
NM_000098.3(CPT2):c.377C>G (p.Ser126Cys) rs750572726
NM_000098.3(CPT2):c.37_39del (p.Gly13del) rs1553168847
NM_000098.3(CPT2):c.416C>G (p.Pro139Arg) rs369475478
NM_000098.3(CPT2):c.520G>C (p.Glu174Gln) rs28936674
NM_000098.3(CPT2):c.578G>A (p.Arg193His) rs765824169
NM_000098.3(CPT2):c.739A>T (p.Arg247Trp) rs1360046080
NM_000098.3(CPT2):c.953T>G (p.Val318Gly) rs727503888

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