ClinVar Miner

List of variants reported as likely pathogenic for encephalopathy, acute, infection-induced, susceptibility to, 4 by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.200C>G (p.Ala67Gly) rs201966320 0.00006
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565 0.00002
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys) rs778743524 0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296 0.00001
NM_000098.3(CPT2):c.341-2A>G rs752468216 0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674 0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs) rs1057517493 0.00001
NM_000098.3(CPT2):c.896_906dup (p.Arg303fs) rs766004699 0.00001
NM_000098.3(CPT2):c.1021_1024delinsTTG (p.Asn341fs) rs1553169720
NM_000098.3(CPT2):c.1046dup (p.Asn349fs) rs1057517515
NM_000098.3(CPT2):c.1068dup (p.Asn357Ter)
NM_000098.3(CPT2):c.106dup (p.Gln36fs)
NM_000098.3(CPT2):c.1143_1144del (p.Arg382fs)
NM_000098.3(CPT2):c.1198_1199del (p.Gln400fs)
NM_000098.3(CPT2):c.1246_1250del (p.Asn416fs)
NM_000098.3(CPT2):c.1279_1280dup (p.Thr428fs)
NM_000098.3(CPT2):c.1282dup (p.Thr428fs)
NM_000098.3(CPT2):c.1323_1326del (p.Thr442fs) rs1557718075
NM_000098.3(CPT2):c.1324dup (p.Thr442fs) rs1131691330
NM_000098.3(CPT2):c.1392_1396dup (p.Val466fs)
NM_000098.3(CPT2):c.1436A>G (p.Tyr479Cys) rs749895856
NM_000098.3(CPT2):c.1437C>G (p.Tyr479Ter)
NM_000098.3(CPT2):c.1446_1447del (p.Val483fs) rs1553169787
NM_000098.3(CPT2):c.1455_1458dup (p.Glu487fs)
NM_000098.3(CPT2):c.1476_1482dup (p.Lys495fs)
NM_000098.3(CPT2):c.1577del (p.Gly526fs)
NM_000098.3(CPT2):c.1608dup (p.Lys537fs) rs1553169813
NM_000098.3(CPT2):c.1724del (p.Leu575fs)
NM_000098.3(CPT2):c.1806del (p.Phe602fs)
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser) rs1645443275
NM_000098.3(CPT2):c.1822G>C (p.Asp608His) rs780286639
NM_000098.3(CPT2):c.1836del (p.Tyr614fs)
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer) rs1553170029
NM_000098.3(CPT2):c.192C>A (p.Tyr64Ter)
NM_000098.3(CPT2):c.1932dup (p.Glu645fs) rs1645445189
NM_000098.3(CPT2):c.213_214del (p.Leu72fs) rs751253358
NM_000098.3(CPT2):c.257del (p.Ser86fs)
NM_000098.3(CPT2):c.29G>A (p.Trp10Ter)
NM_000098.3(CPT2):c.350_354del (p.Phe117fs) rs778895906
NM_000098.3(CPT2):c.627_630dup (p.Pro211fs) rs1553169629
NM_000098.3(CPT2):c.631C>T (p.Pro211Ser)
NM_000098.3(CPT2):c.670del (p.Thr224fs) rs762366252
NM_000098.3(CPT2):c.725_726del (p.His242fs) rs1238901632
NM_000098.3(CPT2):c.725dup (p.His242fs)
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.975_976del (p.Cys326fs)
NM_000098.3(CPT2):c.989dup (p.Ile332fs) rs1553169716
NM_000098.3(CPT2):c.994dup (p.Ile332fs)

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