ClinVar Miner

List of variants studied for infancy electroclinical syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405 0.00027
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln) rs553120567 0.00027
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) rs201287443 0.00027
NM_173354.5(SIK1):c.1246-5C>T rs371389145 0.00019
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His) rs201718767 0.00015
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser) rs150241349 0.00012
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys) rs920545433 0.00007
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=) rs968327265 0.00004
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=) rs138241682 0.00003
NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met) rs372062686 0.00003
NM_015192.4(PLCB1):c.890G>A (p.Arg297His) rs775904184 0.00003
NM_173354.5(SIK1):c.955C>T (p.Arg319Trp) rs759268634 0.00003
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729 0.00002
NM_001371246.1(SCN2A):c.687T>C (p.Ser229=) rs746904068 0.00002
NM_000834.5(GRIN2B):c.2011-8C>G rs774971411 0.00001
NM_000834.5(GRIN2B):c.3118G>A (p.Gly1040Ser) rs202222002 0.00001
NM_000834.5(GRIN2B):c.3981G>A (p.Lys1327=) rs201670483 0.00001
NM_001040142.2(SCN2A):c.2149+3A>C rs1474808070 0.00001
NM_001130438.3(SPTAN1):c.5672T>C (p.Ile1891Thr) rs961696023 0.00001
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp) rs1218269439 0.00001
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser) rs769269501 0.00001
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter) rs1195818093 0.00001
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.4722C>A (p.Phe1574Leu) rs1558884200
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs) rs1569219331
NM_001330260.2(SCN8A):c.4282-10C>G rs369145855
NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)
NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs) rs1568577135
NM_139058.3(ARX):c.229G>A (p.Ala77Thr)
NM_145239.3(PRRT2):c.304del (p.Glu102fs) rs1567379016
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val) rs200402559

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