ClinVar Miner

List of variants reported as likely pathogenic for benign neonatal seizures

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His) rs1204519015 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
GRCh37/hg19 20q13.33(chr20:61038552-62907579)
GRCh37/hg19 20q13.33(chr20:61041481-62680992)
GRCh37/hg19 20q13.33(chr20:61273854-62907579)
GRCh37/hg19 20q13.33(chr20:61826780-62660844)
GRCh37/hg19 20q13.33(chr20:61944468-62104030)
GRCh37/hg19 20q13.33(chr20:61974574-62078190)
GRCh37/hg19 20q13.33(chr20:61974574-62129187)
GRCh37/hg19 20q13.33(chr20:61986847-62055559)
GRCh37/hg19 20q13.33(chr20:61986847-62224435)
GRCh37/hg19 20q13.33(chr20:62069977-62129187)
NC_000008.11:g.(?_132180137)_(132186201_?)dup
NM_004519.4(KCNQ3):c.1045-1G>T rs1826416962
NM_004519.4(KCNQ3):c.104_105del (p.Ala35fs) rs1822523749
NM_004519.4(KCNQ3):c.1066G>A (p.Ala356Thr) rs2130121430
NM_004519.4(KCNQ3):c.1120C>G (p.Pro374Ala)
NM_004519.4(KCNQ3):c.1123G>A (p.Ala375Thr) rs2130121106
NM_004519.4(KCNQ3):c.1262+1G>T
NM_004519.4(KCNQ3):c.38GCG[5] (p.Gly16dup) rs981093917
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004519.4(KCNQ3):c.777+1G>T
NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser) rs1554627439
NM_004519.4(KCNQ3):c.929G>A (p.Gly310Asp) rs118192250
NM_004519.4(KCNQ3):c.951T>G (p.Ile317Met) rs2130128566
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251
NM_172107.4(KCNQ2):c.1027G>C (p.Ala343Pro)
NM_172107.4(KCNQ2):c.1045A>C (p.Thr349Pro) rs2145680256
NM_172107.4(KCNQ2):c.1050C>A (p.Asn350Lys) rs1371059392
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter) rs1185859533
NM_172107.4(KCNQ2):c.1123C>T (p.Gln375Ter) rs756360226
NM_172107.4(KCNQ2):c.1149-1G>T rs1600714727
NM_172107.4(KCNQ2):c.1154dup (p.Leu388fs) rs2145637592
NM_172107.4(KCNQ2):c.1328_1350del (p.Val443fs)
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr) rs1555853970
NM_172107.4(KCNQ2):c.1623_1631+5del rs2145547209
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile) rs2080191127
NM_172107.4(KCNQ2):c.1639C>G (p.Arg547Gly) rs796052650
NM_172107.4(KCNQ2):c.1658G>C (p.Arg553Pro) rs118192234
NM_172107.4(KCNQ2):c.1663T>A (p.Phe555Ile) rs2145542277
NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)
NM_172107.4(KCNQ2):c.1763+4A>G rs2145541064
NM_172107.4(KCNQ2):c.2156del (p.Gln719fs)
NM_172107.4(KCNQ2):c.242T>C (p.Leu81Pro) rs2145921196
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.367del (p.Glu123fs) rs2145789218
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys) rs796052617
NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val) rs1381622639
NM_172107.4(KCNQ2):c.388-2A>G rs2145779858
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met) rs1600789325
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.562C>A (p.Gln188Lys) rs2081363302
NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val) rs796052619
NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys) rs1568940442
NM_172107.4(KCNQ2):c.617T>C (p.Leu206Pro) rs1339542565
NM_172107.4(KCNQ2):c.649A>C (p.Thr217Pro) rs1057516089
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe) rs2145774638
NM_172107.4(KCNQ2):c.696_698dup (p.Val233dup) rs1600767259
NM_172107.4(KCNQ2):c.715G>A (p.Gly239Ser)
NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val) rs796052630
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn) rs777257591
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp) rs1131691936
NM_172107.4(KCNQ2):c.936G>T (p.Leu312Phe) rs2145712758
NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu) rs2145712576

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