ClinVar Miner

List of variants studied for Autosomal dominant nocturnal frontal lobe epilepsy 1

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Total variants: 63
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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.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.51G>A (p.Leu17=) rs79739740 0.05992
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00152
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys) rs56175056 0.00045
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027 0.00029
NM_000744.7(CHRNA4):c.1169G>A (p.Gly390Glu) rs121912268 0.00024
NM_000744.7(CHRNA4):c.1538G>A (p.Arg513His) rs868845088 0.00023
NM_000744.7(CHRNA4):c.296G>A (p.Arg99His) rs143103435 0.00021
NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln) rs55855125 0.00016
NM_000744.7(CHRNA4):c.1861C>A (p.Pro621Thr) rs199852690 0.00009
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln) rs200007766 0.00007
NM_000744.7(CHRNA4):c.138C>T (p.Ser46=) rs200705061 0.00006
NM_000744.7(CHRNA4):c.1759-4G>A rs374354698 0.00005
NM_000744.7(CHRNA4):c.1425C>T (p.Gly475=) rs121912279 0.00003
NM_000744.7(CHRNA4):c.1697G>A (p.Arg566Gln) rs200810080 0.00003
NM_000744.7(CHRNA4):c.1109G>A (p.Arg370Gln) rs121912267 0.00002
NM_000744.7(CHRNA4):c.1412T>C (p.Met471Thr) rs1317529556 0.00002
NM_000744.7(CHRNA4):c.640G>A (p.Ala214Thr) rs758348186 0.00002
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His) rs281865068 0.00001
NM_000744.7(CHRNA4):c.1029G>C (p.Trp343Cys) rs1234808455 0.00001
NM_000744.7(CHRNA4):c.1060C>T (p.Arg354Cys) rs758534439 0.00001
NM_000744.7(CHRNA4):c.1184C>T (p.Thr395Met) rs121912269 0.00001
NM_000744.7(CHRNA4):c.1354C>T (p.Pro452Ser) rs199914663 0.00001
NM_000744.7(CHRNA4):c.1447C>T (p.Arg483Trp) rs998924085 0.00001
NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr) rs150336658 0.00001
NM_000744.7(CHRNA4):c.1741G>A (p.Glu581Lys) rs752289948 0.00001
NM_000744.7(CHRNA4):c.986A>G (p.Asn329Ser) rs201046441 0.00001
NM_000744.7(CHRNA4):c.1075A>G (p.Lys359Glu) rs1555837732
NM_000744.7(CHRNA4):c.1085C>T (p.Ser362Phe)
NM_000744.7(CHRNA4):c.1113_1114insTATG (p.Ile372fs)
NM_000744.7(CHRNA4):c.1175C>T (p.Pro392Leu) rs2123471262
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000744.7(CHRNA4):c.1271C>T (p.Ser424Leu)
NM_000744.7(CHRNA4):c.1369G>A (p.Ala457Thr) rs753598324
NM_000744.7(CHRNA4):c.1418G>A (p.Ser473Asn) rs2068560302
NM_000744.7(CHRNA4):c.1466T>C (p.Ile489Thr) rs377087067
NM_000744.7(CHRNA4):c.1504G>T (p.Ala502Ser)
NM_000744.7(CHRNA4):c.1577C>T (p.Pro526Leu)
NM_000744.7(CHRNA4):c.1598G>C (p.Cys533Ser)
NM_000744.7(CHRNA4):c.1616C>T (p.Ser539Leu)
NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg) rs77345643
NM_000744.7(CHRNA4):c.198C>A (p.Phe66Leu) rs201018244
NM_000744.7(CHRNA4):c.245T>C (p.Met82Thr) rs2068719750
NM_000744.7(CHRNA4):c.348G>C (p.Glu116Asp) rs866334493
NM_000744.7(CHRNA4):c.38_49dup (p.Pro13_Leu16dup) rs1064794327
NM_000744.7(CHRNA4):c.479C>G (p.Ser160Cys) rs201421555
NM_000744.7(CHRNA4):c.481T>C (p.Cys161Arg)
NM_000744.7(CHRNA4):c.496A>T (p.Thr166Ser) rs1568810867
NM_000744.7(CHRNA4):c.682G>A (p.Glu228Lys) rs1064795157
NM_000744.7(CHRNA4):c.799C>T (p.Leu267=) rs121912256
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup) rs281865067
NM_000744.7(CHRNA4):c.919G>A (p.Gly307Ser) rs764586079
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)

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