ClinVar Miner

List of variants in gene combination CHRNA4, LOC100130587 reported as likely benign for adolescent-onset epilepsy syndrome

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000744.7(CHRNA4):c.76+18G>T rs199908363 0.00504
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498 0.00257
NM_000744.7(CHRNA4):c.42G>A (p.Pro14=) rs565990502 0.00048
NM_000744.7(CHRNA4):c.13G>A (p.Gly5Ser) rs1043176387 0.00002
NM_000744.7(CHRNA4):c.35T>C (p.Leu12Pro) rs1060503516 0.00002
NM_000744.7(CHRNA4):c.15C>G (p.Gly5=) rs1208135470 0.00001
NM_000744.7(CHRNA4):c.16C>T (p.Pro6Ser) rs796052312 0.00001
NM_000744.7(CHRNA4):c.17C>T (p.Pro6Leu) rs1238575890 0.00001
NM_000744.7(CHRNA4):c.38C>G (p.Pro13Arg) rs796052313 0.00001
NM_000744.7(CHRNA4):c.76+19G>A rs1432252194 0.00001
NM_000744.7(CHRNA4):c.15C>T (p.Gly5=)
NM_000744.7(CHRNA4):c.18C>G (p.Pro6=)
NM_000744.7(CHRNA4):c.21A>C (p.Gly7=)
NM_000744.7(CHRNA4):c.21A>G (p.Gly7=) rs1406609330
NM_000744.7(CHRNA4):c.27G>A (p.Pro9=)
NM_000744.7(CHRNA4):c.33G>C (p.Leu11=)
NM_000744.7(CHRNA4):c.36G>A (p.Leu12=) rs1039600168
NM_000744.7(CHRNA4):c.38C>T (p.Pro13Leu)
NM_000744.7(CHRNA4):c.38_49dup (p.Pro13_Leu16dup) rs1064794327
NM_000744.7(CHRNA4):c.38_52dup (p.Pro13_Leu17dup) rs771936944
NM_000744.7(CHRNA4):c.39G>A (p.Pro13=) rs1158391765
NM_000744.7(CHRNA4):c.41C>T (p.Pro14Leu) rs761934698
NM_000744.7(CHRNA4):c.42G>C (p.Pro14=)
NM_000744.7(CHRNA4):c.42G>T (p.Pro14=) rs565990502
NM_000744.7(CHRNA4):c.51G>C (p.Leu17=) rs79739740
NM_000744.7(CHRNA4):c.66C>T (p.Gly22=) rs2145412236
NM_000744.7(CHRNA4):c.72G>A (p.Leu24=)
NM_000744.7(CHRNA4):c.73C>T (p.Arg25Cys) rs2068812315
NM_000744.7(CHRNA4):c.76+10G>A rs2145412202
NM_000744.7(CHRNA4):c.76+12G>C rs796052315
NM_000744.7(CHRNA4):c.76+13G>T
NM_000744.7(CHRNA4):c.76+9C>G
NM_000744.7(CHRNA4):c.9del (p.Gly5fs) rs2145412485

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