ClinVar Miner

List of variants in gene CHRNA4 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 133
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HGVS dbSNP gnomAD frequency
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.189C>T (p.Leu63=) rs2273506 0.09394
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.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.1160A>G (p.Glu387Gly) rs45604738 0.00088
NM_000744.7(CHRNA4):c.1053C>T (p.Ile351=) rs61737042 0.00082
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp) rs76378652 0.00080
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225 0.00070
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.225C>T (p.Asp75=) rs113080067 0.00051
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys) rs56175056 0.00045
NM_000744.7(CHRNA4):c.1431G>A (p.Ala477=) rs80307076 0.00040
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.879C>T (p.Thr293=) rs371527699 0.00027
NM_000744.7(CHRNA4):c.1550C>T (p.Ser517Leu) rs45622132 0.00026
NM_000744.7(CHRNA4):c.1415C>T (p.Ser472Phe) rs534477048 0.00025
NM_000744.7(CHRNA4):c.1538G>A (p.Arg513His) rs868845088 0.00023
NM_000744.7(CHRNA4):c.1551G>A (p.Ser517=) rs201441215 0.00023
NM_000744.7(CHRNA4):c.1584G>A (p.Pro528=) rs199783192 0.00021
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=) rs121912283 0.00021
NM_000744.7(CHRNA4):c.1360G>A (p.Gly454Ser) rs78306886 0.00014
NM_000744.7(CHRNA4):c.1373C>T (p.Pro458Leu) rs121912277 0.00013
NM_000744.7(CHRNA4):c.1228G>A (p.Val410Ile) rs121912272 0.00010
NM_000744.7(CHRNA4):c.1245G>A (p.Pro415=) rs200164578 0.00009
NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr) rs796052318 0.00009
NM_000744.7(CHRNA4):c.963C>T (p.Ile321=) rs121912261 0.00009
NM_000744.7(CHRNA4):c.402G>A (p.Ala134=) rs201488442 0.00008
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln) rs200007766 0.00007
NM_000744.7(CHRNA4):c.852G>A (p.Ser284=) rs199741056 0.00007
NM_000744.7(CHRNA4):c.1116C>T (p.Ile372=) rs199889002 0.00006
NM_000744.7(CHRNA4):c.138C>T (p.Ser46=) rs200705061 0.00006
NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln) rs755416498 0.00006
NM_000744.7(CHRNA4):c.1535C>G (p.Ser512Cys) rs754133410 0.00006
NM_000744.7(CHRNA4):c.1825G>A (p.Val609Ile) rs201168195 0.00006
NM_000744.7(CHRNA4):c.711C>T (p.Phe237=) rs144446511 0.00006
NM_000744.7(CHRNA4):c.1525G>A (p.Ala509Thr) rs142137599 0.00005
NM_000744.7(CHRNA4):c.492C>T (p.Asp164=) rs200259564 0.00005
NM_000744.7(CHRNA4):c.1138A>G (p.Ser380Gly) rs187372416 0.00004
NM_000744.7(CHRNA4):c.1189G>A (p.Gly397Ser) rs200667912 0.00004
NM_000744.7(CHRNA4):c.1402G>A (p.Val468Ile) rs121912278 0.00004
NM_000744.7(CHRNA4):c.1522G>A (p.Gly508Ser) rs111286066 0.00004
NM_000744.7(CHRNA4):c.1625C>T (p.Pro542Leu) rs121912281 0.00004
NM_000744.7(CHRNA4):c.1061G>A (p.Arg354His) rs200605749 0.00003
NM_000744.7(CHRNA4):c.1318G>C (p.Ala440Pro) rs771136225 0.00003
NM_000744.7(CHRNA4):c.1500C>T (p.Pro500=) rs201391859 0.00003
NM_000744.7(CHRNA4):c.1521C>T (p.Ala507=) rs138865255 0.00003
NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp) rs121912243 0.00003
NM_000744.7(CHRNA4):c.931C>T (p.Leu311=) rs767662811 0.00003
NM_000744.7(CHRNA4):c.99G>C (p.Arg33=) rs539718301 0.00003
NM_000744.7(CHRNA4):c.1012C>G (p.His338Asp) rs200069626 0.00002
NM_000744.7(CHRNA4):c.1050C>T (p.Asp350=) rs751875597 0.00002
NM_000744.7(CHRNA4):c.1082C>T (p.Pro361Leu) rs267606048 0.00002
NM_000744.7(CHRNA4):c.1109G>A (p.Arg370Gln) rs121912267 0.00002
NM_000744.7(CHRNA4):c.1376G>A (p.Gly459Glu) rs753201154 0.00002
NM_000744.7(CHRNA4):c.1421C>G (p.Pro474Arg) rs199778549 0.00002
NM_000744.7(CHRNA4):c.1531G>T (p.Ala511Ser) rs200795334 0.00002
NM_000744.7(CHRNA4):c.1685C>T (p.Pro562Leu) rs200750362 0.00002
NM_000744.7(CHRNA4):c.401C>T (p.Ala134Val) rs201376529 0.00002
NM_000744.7(CHRNA4):c.560C>G (p.Ala187Gly) rs200197645 0.00002
NM_000744.7(CHRNA4):c.971C>T (p.Thr324Met) rs531615515 0.00002
NM_000744.7(CHRNA4):c.1010C>T (p.Thr337Met) rs201673381 0.00001
NM_000744.7(CHRNA4):c.1029G>C (p.Trp343Cys) rs1234808455 0.00001
NM_000744.7(CHRNA4):c.105C>T (p.His35=) rs199541666 0.00001
NM_000744.7(CHRNA4):c.1159G>A (p.Glu387Lys) rs534229205 0.00001
NM_000744.7(CHRNA4):c.1232C>A (p.Pro411His) rs779035642 0.00001
NM_000744.7(CHRNA4):c.1249G>A (p.Glu417Lys) rs369269532 0.00001
NM_000744.7(CHRNA4):c.1265G>A (p.Cys422Tyr) rs121912273 0.00001
NM_000744.7(CHRNA4):c.1273C>T (p.Pro425Ser) rs764808511 0.00001
NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr) rs150336658 0.00001
NM_000744.7(CHRNA4):c.1498C>T (p.Pro500Ser) rs770800835 0.00001
NM_000744.7(CHRNA4):c.150G>A (p.Lys50=) rs985967668 0.00001
NM_000744.7(CHRNA4):c.1520C>T (p.Ala507Val) rs747883053 0.00001
NM_000744.7(CHRNA4):c.1532C>T (p.Ala511Val) rs368476334 0.00001
NM_000744.7(CHRNA4):c.1585T>C (p.Cys529Arg) rs112515579 0.00001
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282 0.00001
NM_000744.7(CHRNA4):c.1721T>C (p.Ile574Thr) rs139657121 0.00001
NM_000744.7(CHRNA4):c.1780G>A (p.Val594Met) rs370887602 0.00001
NM_000744.7(CHRNA4):c.190G>A (p.Val64Ile) rs756367182 0.00001
NM_000744.7(CHRNA4):c.570C>T (p.Asp190=) rs554282916 0.00001
NM_000744.7(CHRNA4):c.940A>G (p.Met314Val) rs773225799 0.00001
NM_000744.7(CHRNA4):c.1144C>T (p.Pro382Ser) rs1568809115
NM_000744.7(CHRNA4):c.1158C>G (p.Pro386=) rs45564639
NM_000744.7(CHRNA4):c.1158C>T (p.Pro386=) rs45564639
NM_000744.7(CHRNA4):c.116G>A (p.Arg39Gln) rs1412355004
NM_000744.7(CHRNA4):c.1191C>T (p.Gly397=) rs1568808988
NM_000744.7(CHRNA4):c.1207C>T (p.Pro403Ser)
NM_000744.7(CHRNA4):c.1208_1209delinsGT (p.Pro403Arg)
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000744.7(CHRNA4):c.1220C>T (p.Ser407Phe) rs761335733
NM_000744.7(CHRNA4):c.1280A>T (p.Asp427Val)
NM_000744.7(CHRNA4):c.1406A>G (p.Gln469Arg)
NM_000744.7(CHRNA4):c.1418G>A (p.Ser473Asn) rs2068560302
NM_000744.7(CHRNA4):c.1459C>G (p.Arg487Gly)
NM_000744.7(CHRNA4):c.1592G>T (p.Cys531Phe)
NM_000744.7(CHRNA4):c.1595C>T (p.Thr532Ile)
NM_000744.7(CHRNA4):c.1596A>G (p.Thr532=) rs533213338
NM_000744.7(CHRNA4):c.1616C>G (p.Ser539Trp)
NM_000744.7(CHRNA4):c.1616C>T (p.Ser539Leu)
NM_000744.7(CHRNA4):c.1681T>C (p.Ser561Pro)
NM_000744.7(CHRNA4):c.1759G>C (p.Val587Leu)
NM_000744.7(CHRNA4):c.1854C>G (p.Phe618Leu) rs1568805215
NM_000744.7(CHRNA4):c.200G>A (p.Gly67Asp) rs1568819500
NM_000744.7(CHRNA4):c.220A>C (p.Ile74Leu) rs2068771449
NM_000744.7(CHRNA4):c.506C>T (p.Pro169Leu) rs199519224
NM_000744.7(CHRNA4):c.516G>A (p.Gln172=) rs141909279
NM_000744.7(CHRNA4):c.516G>C (p.Gln172His)
NM_000744.7(CHRNA4):c.563A>G (p.Lys188Arg)
NM_000744.7(CHRNA4):c.622G>A (p.Glu208Lys) rs771249249
NM_000744.7(CHRNA4):c.661A>G (p.Arg221Gly)
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000744.7(CHRNA4):c.721C>G (p.Arg241Gly)
NM_000744.7(CHRNA4):c.728C>T (p.Pro243Leu)
NM_000744.7(CHRNA4):c.778C>T (p.Leu260Phe)
NM_000744.7(CHRNA4):c.825C>G (p.Ile275Met)
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.7(CHRNA4):c.859G>T (p.Val287Phe)
NM_000744.7(CHRNA4):c.85C>T (p.His29Tyr)
NM_000744.7(CHRNA4):c.919G>A (p.Gly307Ser) rs764586079
NM_000744.7(CHRNA4):c.922G>A (p.Glu308Lys)

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