ClinVar Miner

List of variants reported as likely pathogenic for benign familial infantile epilepsy

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp) rs760521217 0.00003
NM_145239.3(PRRT2):c.955G>T (p.Val319Leu) rs945627261 0.00001
NC_000002.11:g.(?_166152283)_(166246384_?)dup
NC_000002.11:g.(?_166210682)_(166211201_?)del
NC_000002.11:g.(?_166237239)_(166239066_?)del
NC_000002.12:g.(?_165342276)_(165389844_?)del
NC_000012.11:g.52199766_52388207del
NM_001040142.2(SCN2A):c.1120T>C (p.Phe374Leu) rs1697569337
NM_001040142.2(SCN2A):c.1135C>T (p.Arg379Cys)
NM_001040142.2(SCN2A):c.1148A>T (p.Gln383Leu) rs2105255430
NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys) rs747086776
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala) rs796053181
NM_001040142.2(SCN2A):c.1289A>G (p.Glu430Gly) rs796053183
NM_001040142.2(SCN2A):c.1384-2A>G rs1574571769
NM_001040142.2(SCN2A):c.1672-2A>G
NM_001040142.2(SCN2A):c.1912del (p.Leu638fs)
NM_001040142.2(SCN2A):c.2305A>G (p.Ile769Val) rs1698670041
NM_001040142.2(SCN2A):c.2528T>A (p.Val843Glu) rs1574636716
NM_001040142.2(SCN2A):c.2538G>T (p.Leu846Phe) rs1699366355
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2620A>G (p.Ile874Val) rs1699475919
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr) rs1574641522
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser) rs1574641522
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu) rs1574641605
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2674G>T (p.Val892Phe)
NM_001040142.2(SCN2A):c.2680_2686delinsCTTTTTT (p.Ile894_Ala896delinsLeuPheSer) rs2105318837
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp) rs796053121
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His) rs1553579488
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val) rs2105319172
NM_001040142.2(SCN2A):c.2893_2901del (p.Met965_Met967del) rs2105319200
NM_001040142.2(SCN2A):c.2916_2917delinsTT (p.Val973Leu) rs2105319230
NM_001040142.2(SCN2A):c.2926A>C (p.Asn976His)
NM_001040142.2(SCN2A):c.2934C>A (p.Phe978Leu)
NM_001040142.2(SCN2A):c.2936T>G (p.Leu979Trp) rs1553583544
NM_001040142.2(SCN2A):c.2950A>G (p.Ser984Gly) rs1700069881
NM_001040142.2(SCN2A):c.2959A>T (p.Ser987Cys) rs2105336842
NM_001040142.2(SCN2A):c.2983GAT[2] (p.Asp997del) rs1700070748
NM_001040142.2(SCN2A):c.3520+1G>T
NM_001040142.2(SCN2A):c.3634A>C (p.Thr1212Pro) rs1700783234
NM_001040142.2(SCN2A):c.3664A>C (p.Ser1222Arg) rs1574697769
NM_001040142.2(SCN2A):c.3823T>C (p.Cys1275Arg) rs2105365343
NM_001040142.2(SCN2A):c.3928G>C (p.Ala1310Pro) rs1701139863
NM_001040142.2(SCN2A):c.3935G>C (p.Arg1312Thr)
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) rs190111194
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3956G>C (p.Arg1319Pro)
NM_001040142.2(SCN2A):c.3961G>C (p.Glu1321Gln)
NM_001040142.2(SCN2A):c.3973-2A>G rs1701219319
NM_001040142.2(SCN2A):c.3986C>G (p.Ala1329Gly) rs1553593578
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe) rs121917749
NM_001040142.2(SCN2A):c.4012A>G (p.Met1338Val)
NM_001040142.2(SCN2A):c.4037T>A (p.Ile1346Asn) rs1483179196
NM_001040142.2(SCN2A):c.4069A>T (p.Asn1357Tyr) rs2105373101
NM_001040142.2(SCN2A):c.4123T>G (p.Phe1375Val) rs1308555812
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala) rs1574716488
NM_001040142.2(SCN2A):c.4243C>A (p.Leu1415Ile) rs1574716524
NM_001040142.2(SCN2A):c.4255-6T>A rs1701381827
NM_001040142.2(SCN2A):c.4309-2A>G
NM_001040142.2(SCN2A):c.4391C>T (p.Thr1464Ile) rs1701553334
NM_001040142.2(SCN2A):c.4418T>C (p.Ile1473Thr) rs1085307898
NM_001040142.2(SCN2A):c.4434A>C (p.Gln1478His)
NM_001040142.2(SCN2A):c.4451G>A (p.Gly1484Glu) rs2105385669
NM_001040142.2(SCN2A):c.4462A>G (p.Ile1488Val) rs2105385694
NM_001040142.2(SCN2A):c.4470G>C (p.Met1490Ile)
NM_001040142.2(SCN2A):c.4501A>G (p.Met1501Val) rs2105385817
NM_001040142.2(SCN2A):c.4503G>A (p.Met1501Ile)
NM_001040142.2(SCN2A):c.4552-2A>G
NM_001040142.2(SCN2A):c.4614G>T (p.Met1538Ile) rs1553463042
NM_001040142.2(SCN2A):c.4635G>C (p.Met1545Ile) rs1574746733
NM_001040142.2(SCN2A):c.4635G>T (p.Met1545Ile) rs1574746733
NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr) rs1057519524
NM_001040142.2(SCN2A):c.4652A>C (p.Glu1551Ala)
NM_001040142.2(SCN2A):c.4688T>G (p.Leu1563Arg) rs1574746935
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001040142.2(SCN2A):c.4801G>A (p.Val1601Met) rs1553463140
NM_001040142.2(SCN2A):c.4822+1G>A
NM_001040142.2(SCN2A):c.4880T>C (p.Val1627Ala) rs1702003246
NM_001040142.2(SCN2A):c.4885C>T (p.Arg1629Cys) rs1702003567
NM_001040142.2(SCN2A):c.4907T>A (p.Ile1636Asn)
NM_001040142.2(SCN2A):c.4908C>G (p.Ile1636Met) rs796053160
NM_001040142.2(SCN2A):c.4918A>C (p.Ile1640Leu)
NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe) rs1702006673
NM_001040142.2(SCN2A):c.4946T>C (p.Leu1649Pro) rs1702008208
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001040142.2(SCN2A):c.5017A>T (p.Ile1673Phe)
NM_001040142.2(SCN2A):c.5117G>C (p.Cys1706Ser) rs1553463513
NM_001040142.2(SCN2A):c.5131A>G (p.Thr1711Ala)
NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu)
NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val) rs1553463602
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile) rs1574752700
NM_001040142.2(SCN2A):c.5408A>T (p.Glu1803Val)
NM_001040142.2(SCN2A):c.5433G>C (p.Gln1811His)
NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp) rs1553463718
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.5637G>A (p.Met1879Ile)
NM_001040142.2(SCN2A):c.5638G>A (p.Glu1880Lys) rs1553463772
NM_001040142.2(SCN2A):c.5660A>C (p.Asn1887Thr) rs2105403619
NM_001040142.2(SCN2A):c.5670A>C (p.Lys1890Asn) rs1702039582
NM_001040142.2(SCN2A):c.586T>G (p.Phe196Val) rs2105243497
NM_001040142.2(SCN2A):c.5918C>G (p.Pro1973Arg) rs1574754680
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser) rs1064796691
NM_001040142.2(SCN2A):c.629T>A (p.Leu210Gln) rs1559352517
NM_001040142.2(SCN2A):c.635A>G (p.Asn212Ser) rs2105244912
NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala) rs1574556643
NM_001040142.2(SCN2A):c.664C>A (p.Leu222Ile) rs2105245017
NM_001040142.2(SCN2A):c.685T>G (p.Ser229Ala) rs1553567561
NM_001040142.2(SCN2A):c.718G>A (p.Ala240Thr) rs1064795014
NM_001040142.2(SCN2A):c.722T>G (p.Leu241Arg)
NM_001040142.2(SCN2A):c.751G>T (p.Val251Phe)
NM_001040142.2(SCN2A):c.788C>G (p.Ala263Gly)
NM_001040142.2(SCN2A):c.83G>A (p.Arg28His)
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter) rs2138863024
NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)
NM_001330260.2(SCN8A):c.2945C>T (p.Ala982Val) rs1565917697
NM_001330260.2(SCN8A):c.4841C>A (p.Thr1614Asn)
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn) rs1131691830
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001330260.2(SCN8A):c.986A>G (p.Asp329Gly) rs1592389210
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly) rs1592380687
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile) rs1592380699
NM_145239.3(PRRT2):c.1001T>A (p.Ile334Asn)
NM_145239.3(PRRT2):c.250del (p.Ala84fs) rs2142423353
NM_145239.3(PRRT2):c.304del (p.Glu102fs) rs1567379016
NM_145239.3(PRRT2):c.341_342del (p.Val114fs) rs1900077598
NM_145239.3(PRRT2):c.515_516del (p.Leu171_Ser172insTer)
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala)
NM_145239.3(PRRT2):c.914G>A (p.Gly305Glu)
NM_145239.3(PRRT2):c.971dup (p.Val325fs) rs796052941

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