ClinVar Miner

List of variants in gene SCN11A reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_001349253.2(SCN11A):c.618-195G>C rs4676583 0.99368
NM_001349253.2(SCN11A):c.1842+268T>G rs4359754 0.99365
NM_001349253.2(SCN11A):c.2023-129A>G rs4484137 0.98657
NM_001349253.2(SCN11A):c.1299+269T>C rs6599268 0.89175
NM_001349253.2(SCN11A):c.960-55A>G rs7429404 0.89175
NM_001349253.2(SCN11A):c.1473+77T>G rs6599267 0.89174
NM_001349253.2(SCN11A):c.1603+267A>C rs4553926 0.89171
NM_001349253.2(SCN11A):c.893-45A>G rs6779297 0.89171
NM_001349253.2(SCN11A):c.1842+176C>T rs4289298 0.88710
NM_001349253.2(SCN11A):c.1474-60T>A rs4514993 0.87452
NM_001349253.2(SCN11A):c.267+27T>G rs60219362 0.70778
NM_001349253.2(SCN11A):c.2950-19G>C rs6599266 0.63661
NM_001349253.2(SCN11A):c.267+33T>G rs201109149 0.61126
NM_001349253.2(SCN11A):c.1638T>C (p.Cys546=) rs4073113 0.61123
NM_001349253.2(SCN11A):c.*164A>G rs4234133 0.59137
NM_001349253.2(SCN11A):c.*215A>T rs4234134 0.59132
NM_001349253.2(SCN11A):c.3814-166A>G rs4637231 0.49958
NM_001349253.2(SCN11A):c.-7-247T>C rs35946914 0.38461
NM_001349253.2(SCN11A):c.2836-125A>C rs13099628 0.23234
NM_001349253.2(SCN11A):c.-7-173G>T rs73068589 0.21153
NM_001349253.2(SCN11A):c.2725G>A (p.Val909Ile) rs33985936 0.20310
NM_001349253.2(SCN11A):c.3813+210G>A rs4133368 0.14231
NM_001349253.2(SCN11A):c.1101+120A>G rs11720056 0.13373
NM_001349253.2(SCN11A):c.2022+190T>C rs73068514 0.13367
NM_001349253.2(SCN11A):c.1300-94A>G rs73068538 0.13350
NM_001349253.2(SCN11A):c.3394-148C>T rs67630000 0.11446
NM_001349253.2(SCN11A):c.3394-184T>C rs67434693 0.11364
NM_001349253.2(SCN11A):c.3393+29A>C rs7625935 0.11342
NM_001349253.2(SCN11A):c.4797C>T (p.Tyr1599=) rs62244134 0.10416
NM_001349253.2(SCN11A):c.618-42G>A rs73068563 0.09904
NM_001349253.2(SCN11A):c.2950-84A>C rs13093915 0.08862
NM_001349253.2(SCN11A):c.712+225T>C rs72855722 0.07250
NM_001349253.2(SCN11A):c.712+271T>C rs72855721 0.07240
NM_001349253.2(SCN11A):c.713-12C>A rs9813847 0.06940
NM_001349253.2(SCN11A):c.268-320A>G rs35316970 0.05980
NM_001349253.2(SCN11A):c.1941T>A (p.Ile647=) rs6809179 0.05971
NM_001349253.2(SCN11A):c.5037C>T (p.Arg1679=) rs61752574 0.04549
NM_001349253.2(SCN11A):c.4826C>T (p.Thr1609Ile) rs72869687 0.03801
NM_001349253.2(SCN11A):c.5334G>A (p.Leu1778=) rs4640498 0.03801
NM_001349253.2(SCN11A):c.267+33del rs150760120 0.03497
NM_001349253.2(SCN11A):c.4056+29G>T rs73066579 0.03318
NM_001349253.2(SCN11A):c.489-131T>G rs76161793 0.03034
NM_001349253.2(SCN11A):c.2404-33T>C rs58789223 0.02936
NM_001349253.2(SCN11A):c.1442G>A (p.Gly481Glu) rs13059805 0.02575
NM_001349253.2(SCN11A):c.893-63dup rs148537682 0.02333
NM_001349253.2(SCN11A):c.1102-175T>C rs73828708 0.02074
NM_001349253.2(SCN11A):c.267+27del rs765603809 0.01913
NM_001349253.2(SCN11A):c.268-254G>A rs73828728 0.01726
NM_001349253.2(SCN11A):c.387-52C>T rs61500208 0.01726
NM_001349253.2(SCN11A):c.1062G>A (p.Arg354=) rs73828709 0.01725
NM_001349253.2(SCN11A):c.1299+147C>T rs73828707 0.01725
NM_001349253.2(SCN11A):c.488+71A>G rs55730540 0.01725
NM_001349253.2(SCN11A):c.892+179C>G rs56048904 0.01717
NM_001349253.2(SCN11A):c.713-153C>T rs56386033 0.01712
NM_001349253.2(SCN11A):c.268-143C>T rs73828727 0.01711
NM_001349253.2(SCN11A):c.1299+285C>T rs9848916 0.01509
NM_001349253.2(SCN11A):c.712+62A>G rs114843596 0.01494
NM_001349253.2(SCN11A):c.2023-268C>A rs13315594 0.01437
NM_001349253.2(SCN11A):c.1842+204G>A rs7616269 0.01301
NM_001349253.2(SCN11A):c.617+202T>A rs112060534 0.01196
NM_001349253.2(SCN11A):c.4327+259T>C rs116807211 0.00968
NM_001349253.2(SCN11A):c.3219+245A>G rs115657669 0.00966
NM_001349253.2(SCN11A):c.3220-313A>T rs74783639 0.00966
NM_001349253.2(SCN11A):c.5061C>T (p.Phe1687=) rs75856434 0.00966
NM_001349253.2(SCN11A):c.4056+141C>T rs115396561 0.00965
NM_001349253.2(SCN11A):c.5169C>T (p.Pro1723=) rs116714494 0.00961
NM_001349253.2(SCN11A):c.4683G>C (p.Leu1561=) rs41285131 0.00883
NM_001349253.2(SCN11A):c.3394-322G>A rs116407170 0.00857
NM_001349253.2(SCN11A):c.3819A>G (p.Glu1273=) rs148945365 0.00741
NM_001349253.2(SCN11A):c.267+16G>C rs540729482 0.00718
NM_001349253.2(SCN11A):c.*100C>A rs192005503 0.00600
NM_001349253.2(SCN11A):c.757C>T (p.Leu253=) rs36084747 0.00591
NM_001349253.2(SCN11A):c.268-263C>T rs79087801 0.00571
NM_001349253.2(SCN11A):c.712+55T>A rs75595916 0.00558
NM_001349253.2(SCN11A):c.3064+214G>A rs145262027 0.00543
NM_001349253.2(SCN11A):c.1604-202G>A rs73826402 0.00526
NM_001349253.2(SCN11A):c.712+45T>C rs55689417 0.00525
NM_001349253.2(SCN11A):c.4230G>A (p.Thr1410=) rs78953918 0.00480
NM_001349253.2(SCN11A):c.3952-323G>A rs188158704 0.00472
NM_001349253.2(SCN11A):c.-7-389A>G rs150766376 0.00466
NM_001349253.2(SCN11A):c.1474-207A>G rs141742044 0.00466
NM_001349253.2(SCN11A):c.386+150G>A rs183953683 0.00466
NM_001349253.2(SCN11A):c.387-208G>T rs146423084 0.00466
NM_001349253.2(SCN11A):c.618-128G>A rs183505905 0.00466
NM_001349253.2(SCN11A):c.712+276A>G rs147807728 0.00465
NM_001349253.2(SCN11A):c.1473+31A>G rs145418857 0.00418
NM_001349253.2(SCN11A):c.1473+147T>C rs149865639 0.00417
NM_001349253.2(SCN11A):c.3132C>G (p.Asn1044Lys) rs35693485 0.00382
NM_001349253.2(SCN11A):c.892+176T>C rs57068397 0.00379
NM_001349253.2(SCN11A):c.1473+12C>T rs115646260 0.00378
NM_001349253.2(SCN11A):c.3064+85A>G rs75639842 0.00359
NM_001349253.2(SCN11A):c.4328-250A>C rs80340831 0.00359
NM_001349253.2(SCN11A):c.2950-65C>T rs113427543 0.00331
NM_001349253.2(SCN11A):c.267+73G>A rs553482172 0.00309
NM_001349253.2(SCN11A):c.4057-265T>A rs185529676 0.00301
NM_001349253.2(SCN11A):c.601A>T (p.Ile201Phe) rs139915721 0.00249
NM_001349253.2(SCN11A):c.2213C>T (p.Pro738Leu) rs140995438 0.00163
NM_001349253.2(SCN11A):c.5207G>T (p.Gly1736Val) rs143852849 0.00151
NM_001349253.2(SCN11A):c.95C>T (p.Ala32Val) rs150835546 0.00059
NM_001349253.2(SCN11A):c.1843-10C>A rs200533903 0.00049
NM_001349253.2(SCN11A):c.4272C>T (p.Tyr1424=) rs146409038 0.00036
NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu) rs201107889 0.00034
NM_001349253.2(SCN11A):c.494_501dup (p.Gly168fs) rs780673867 0.00031
NM_001349253.2(SCN11A):c.4973G>A (p.Arg1658His) rs141457896 0.00027
NM_001349253.2(SCN11A):c.2298C>T (p.Cys766=) rs202104116 0.00017
NM_001349253.2(SCN11A):c.2513G>A (p.Arg838Gln) rs149681198 0.00016
NM_001349253.2(SCN11A):c.1097A>G (p.Gln366Arg) rs112707835 0.00013
NM_001349253.2(SCN11A):c.4282G>A (p.Gly1428Ser) rs201336927 0.00012
NM_001349253.2(SCN11A):c.712C>T (p.Arg238Cys) rs146942592 0.00012
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr) rs141228634 0.00011
NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg) rs145734191 0.00009
NM_001349253.2(SCN11A):c.2288G>A (p.Arg763His) rs372078622 0.00009
NM_001349253.2(SCN11A):c.4879T>C (p.Tyr1627His) rs114854233 0.00009
NM_001349253.2(SCN11A):c.2009G>A (p.Arg670His) rs199807325 0.00006
NM_001349253.2(SCN11A):c.2521C>T (p.Arg841Trp) rs184088468 0.00006
NM_001349253.2(SCN11A):c.7G>C (p.Asp3His) rs373639733 0.00006
NM_001349253.2(SCN11A):c.3014G>A (p.Trp1005Ter) rs41285132 0.00005
NM_001349253.2(SCN11A):c.2993A>G (p.Asp998Gly) rs373403886 0.00004
NM_001349253.2(SCN11A):c.3137G>A (p.Arg1046Gln) rs147061364 0.00004
NM_001349253.2(SCN11A):c.5108T>A (p.Met1703Lys) rs377712618 0.00004
NM_001349253.2(SCN11A):c.1765A>G (p.Ile589Val) rs1050521607 0.00002
NM_001349253.2(SCN11A):c.180G>T (p.Arg60Ser) rs149547996 0.00002
NM_001349253.2(SCN11A):c.19C>G (p.Pro7Ala) rs372831672 0.00002
NM_001349253.2(SCN11A):c.2944C>T (p.Arg982Ter) rs145290679 0.00002
NM_001349253.2(SCN11A):c.1030A>G (p.Asn344Asp) rs899453005 0.00001
NM_001349253.2(SCN11A):c.1300-18C>G rs199549308 0.00001
NM_001349253.2(SCN11A):c.1560G>T (p.Gln520His) rs774075554 0.00001
NM_001349253.2(SCN11A):c.2359T>C (p.Cys787Arg) rs758506159 0.00001
NM_001349253.2(SCN11A):c.2666G>C (p.Arg889Thr) rs566379034 0.00001
NM_001349253.2(SCN11A):c.3043C>T (p.Pro1015Ser) rs1449575299 0.00001
NM_001349253.2(SCN11A):c.4770C>G (p.Ile1590Met) rs768568691 0.00001
NM_001349253.2(SCN11A):c.-7-413G>A rs73828751
NM_001349253.2(SCN11A):c.1187T>C (p.Leu396Pro) rs1085307142
NM_001349253.2(SCN11A):c.1259T>A (p.Met420Lys)
NM_001349253.2(SCN11A):c.134_136del (p.Gly45del) rs768121531
NM_001349253.2(SCN11A):c.1454A>G (p.Asp485Gly)
NM_001349253.2(SCN11A):c.1483del (p.Leu494_Leu495insTer) rs763788482
NM_001349253.2(SCN11A):c.1498C>G (p.Arg500Gly) rs367770852
NM_001349253.2(SCN11A):c.1717G>A (p.Val573Met) rs1064795711
NM_001349253.2(SCN11A):c.1751C>G (p.Thr584Ser) rs2065746319
NM_001349253.2(SCN11A):c.1842+46_1842+50del rs10575587
NM_001349253.2(SCN11A):c.1981C>T (p.Leu661Phe)
NM_001349253.2(SCN11A):c.1982T>C (p.Leu661Pro) rs2126120934
NM_001349253.2(SCN11A):c.2011T>C (p.Ser671Pro) rs2126120886
NM_001349253.2(SCN11A):c.2403+22C>A rs748637752
NM_001349253.2(SCN11A):c.2403+23_2403+24dup rs5848481
NM_001349253.2(SCN11A):c.2403+23dup rs5848481
NM_001349253.2(SCN11A):c.2403+44C>A rs202072876
NM_001349253.2(SCN11A):c.256C>A (p.Arg86=) rs78812474
NM_001349253.2(SCN11A):c.2603A>G (p.Glu868Gly)
NM_001349253.2(SCN11A):c.267+14C>G rs751978459
NM_001349253.2(SCN11A):c.267+15dup rs375995524
NM_001349253.2(SCN11A):c.267+18G>C rs572210885
NM_001349253.2(SCN11A):c.267+19G>C rs776868746
NM_001349253.2(SCN11A):c.267+26del rs375995524
NM_001349253.2(SCN11A):c.267+28_267+30dup rs749134287
NM_001349253.2(SCN11A):c.267+30G>C
NM_001349253.2(SCN11A):c.267+33_267+34del rs199978917
NM_001349253.2(SCN11A):c.268-10dup rs552650164
NM_001349253.2(SCN11A):c.268-110del rs138506134
NM_001349253.2(SCN11A):c.2695del (p.Ile899fs) rs1064793260
NM_001349253.2(SCN11A):c.2759C>G (p.Ala920Gly)
NM_001349253.2(SCN11A):c.276G>T (p.Met92Ile) rs1378126936
NM_001349253.2(SCN11A):c.2915A>G (p.Asp972Gly)
NM_001349253.2(SCN11A):c.3061A>C (p.Lys1021Gln) rs1306874235
NM_001349253.2(SCN11A):c.3065-261C>A rs140094178
NM_001349253.2(SCN11A):c.3126G>A (p.Trp1042Ter) rs2126106658
NM_001349253.2(SCN11A):c.3348G>C (p.Lys1116Asn) rs2126103755
NM_001349253.2(SCN11A):c.3368G>A (p.Cys1123Tyr) rs1169309347
NM_001349253.2(SCN11A):c.3452C>T (p.Ala1151Val)
NM_001349253.2(SCN11A):c.3814-219G>T rs35486656
NM_001349253.2(SCN11A):c.386+167G>A rs73828725
NM_001349253.2(SCN11A):c.386+60C>T rs73828726
NM_001349253.2(SCN11A):c.3897del (p.Thr1299_Leu1300insTer)
NM_001349253.2(SCN11A):c.3952-47A>T rs77497897
NM_001349253.2(SCN11A):c.4086dup (p.Val1363fs) rs2126079714
NM_001349253.2(SCN11A):c.4330A>G (p.Thr1444Ala) rs2064700068
NM_001349253.2(SCN11A):c.4529T>C (p.Ile1510Thr)
NM_001349253.2(SCN11A):c.4655G>A (p.Gly1552Asp) rs186698829
NM_001349253.2(SCN11A):c.4849C>A (p.Pro1617Thr) rs2064685980
NM_001349253.2(SCN11A):c.4966C>G (p.Pro1656Ala) rs757777457
NM_001349253.2(SCN11A):c.503G>A (p.Gly168Glu)
NM_001349253.2(SCN11A):c.5162A>G (p.Tyr1721Cys)
NM_001349253.2(SCN11A):c.617+301_617+302dup rs869220907
NM_001349253.2(SCN11A):c.617+301dup rs869220907
NM_001349253.2(SCN11A):c.617+315del rs869220907
NM_001349253.2(SCN11A):c.618-103G>A rs4676474
NM_001349253.2(SCN11A):c.733G>T (p.Ala245Ser) rs1553640860
NM_001349253.2(SCN11A):c.782del (p.Phe261fs) rs1064793259
NM_001349253.2(SCN11A):c.893-167A>G rs6599269
NM_001349253.2(SCN11A):c.893-248AG[2] rs139754089
NM_001349253.2(SCN11A):c.960-327_960-326del rs143559326

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