ClinVar Miner

List of variants in gene CHRNA4 reported as benign for autosomal dominant nocturnal frontal lobe epilepsy

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000744.7(CHRNA4):c.228+26A>G rs6090384 0.86813
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960 0.86626
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394 0.80763
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) rs1044393 0.78554
NM_000744.7(CHRNA4):c.*534C>T rs2236196 0.62296
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40553
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396 0.40465
NM_000744.7(CHRNA4):c.1758+14A>G rs3827020 0.19437
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=) rs2273506 0.09394
NM_000744.7(CHRNA4):c.1758+11C>T rs45442394 0.04350
NM_000744.7(CHRNA4):c.1759-14G>A rs45440192 0.01945
NM_000744.7(CHRNA4):c.384-11T>G rs201015514 0.00425
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440 0.00262
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837 0.00262
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=) rs113168860 0.00222
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=) rs75221202 0.00208
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=) rs75593857 0.00200
NM_000744.7(CHRNA4):c.1662G>A (p.Pro554=) rs121912284 0.00165
NM_000744.7(CHRNA4):c.1758+16G>A rs113109615 0.00153
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00152
NM_000744.7(CHRNA4):c.77-4G>A rs201123897 0.00141
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=) rs76270730 0.00122
NM_000744.7(CHRNA4):c.384-18C>T rs200407438 0.00087
NM_000744.7(CHRNA4):c.1053C>T (p.Ile351=) rs61737042 0.00082
NM_000744.7(CHRNA4):c.1524C>T (p.Gly508=) rs56069517 0.00068
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) rs56142348 0.00066
NM_000744.7(CHRNA4):c.876C>T (p.Ile292=) rs139694653 0.00055
NM_000744.7(CHRNA4):c.1431G>A (p.Ala477=) rs80307076 0.00040
NM_000744.7(CHRNA4):c.462G>A (p.Pro154=) rs121912245 0.00030
NM_000744.7(CHRNA4):c.1665C>T (p.Pro555=) rs199829902 0.00028
NM_000744.7(CHRNA4):c.1560C>T (p.Leu520=) rs142646795 0.00027
NM_000744.7(CHRNA4):c.1550C>T (p.Ser517Leu) rs45622132 0.00026
NM_000744.7(CHRNA4):c.126G>A (p.Lys42=) rs149588336 0.00021
NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln) rs55855125 0.00016
NM_000744.7(CHRNA4):c.384-17G>A rs200449795 0.00014
NM_000744.7(CHRNA4):c.1373C>T (p.Pro458Leu) rs121912277 0.00013
NM_000744.7(CHRNA4):c.948C>T (p.Phe316=) rs121912259 0.00011
NM_000744.7(CHRNA4):c.402G>A (p.Ala134=) rs201488442 0.00008
NM_000744.7(CHRNA4):c.711C>T (p.Phe237=) rs144446511 0.00006
NM_000744.7(CHRNA4):c.492C>T (p.Asp164=) rs200259564 0.00005
NM_000744.7(CHRNA4):c.828G>A (p.Thr276=) rs2234932 0.00004
NM_000744.7(CHRNA4):c.807C>T (p.Ser269=) rs201335931 0.00003
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His) rs281865068 0.00001
NM_000744.7(CHRNA4):c.1010C>T (p.Thr337Met) rs201673381 0.00001
NM_000744.7(CHRNA4):c.1158C>G (p.Pro386=) rs45564639
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000744.7(CHRNA4):c.1740C>T (p.Ala580=)
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436

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