ClinVar Miner

List of variants in gene SCN9A reported as uncertain significance for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 232
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00081
NM_001365536.1(SCN9A):c.49A>G (p.Lys17Glu) rs181981693 0.00012
NM_001365536.1(SCN9A):c.599A>G (p.Tyr200Cys) rs200764978 0.00010
NM_001365536.1(SCN9A):c.328T>C (p.Ser110Pro) rs201503351 0.00009
NM_001365536.1(SCN9A):c.587T>C (p.Ile196Thr) rs200878465 0.00006
NM_001365536.1(SCN9A):c.641G>A (p.Arg214Gln) rs201741634 0.00006
NM_001365536.1(SCN9A):c.205G>A (p.Gly69Ser) rs201243874 0.00005
NM_001365536.1(SCN9A):c.390G>T (p.Met130Ile) rs376036522 0.00005
NM_001365536.1(SCN9A):c.532G>A (p.Val178Ile) rs200417967 0.00005
NM_001365536.1(SCN9A):c.764G>A (p.Cys255Tyr) rs755139637 0.00005
NM_001365536.1(SCN9A):c.76C>T (p.Arg26Cys) rs199933920 0.00005
NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val) rs121908920 0.00004
NM_001365536.1(SCN9A):c.302A>G (p.Asn101Ser) rs752395219 0.00004
NM_001365536.1(SCN9A):c.601T>G (p.Leu201Val) rs80356465 0.00004
NM_001365536.1(SCN9A):c.856T>A (p.Leu286Ile) rs754977237 0.00004
NM_001365536.1(SCN9A):c.118A>G (p.Lys40Glu) rs371565974 0.00003
NM_001365536.1(SCN9A):c.317T>C (p.Leu106Ser) rs202110802 0.00003
NM_001365536.1(SCN9A):c.386G>A (p.Ser129Asn) rs747448727 0.00003
NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr) rs755653914 0.00003
NM_001365536.1(SCN9A):c.136G>A (p.Ala46Thr) rs779344629 0.00002
NM_001365536.1(SCN9A):c.13C>A (p.Pro5Thr) rs201999985 0.00002
NM_001365536.1(SCN9A):c.289A>G (p.Ile97Val) rs192699758 0.00002
NM_001365536.1(SCN9A):c.290T>A (p.Ile97Asn) rs753812341 0.00002
NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu) rs199824489 0.00002
NM_001365536.1(SCN9A):c.30G>C (p.Gln10His) rs942556763 0.00002
NM_001365536.1(SCN9A):c.413C>T (p.Thr138Ile) rs200408344 0.00002
NM_001365536.1(SCN9A):c.466G>A (p.Glu156Lys) rs764699511 0.00002
NM_001365536.1(SCN9A):c.472A>T (p.Thr158Ser) rs758252419 0.00002
NM_001365536.1(SCN9A):c.530G>C (p.Cys177Ser) rs201354058 0.00002
NM_001365536.1(SCN9A):c.553C>T (p.Arg185Cys) rs202083986 0.00002
NM_001365536.1(SCN9A):c.58C>T (p.Leu20Phe) rs200056934 0.00002
NM_001365536.1(SCN9A):c.657G>C (p.Leu219Phe) rs745838757 0.00002
NM_001365536.1(SCN9A):c.73C>A (p.Gln25Lys) rs200709311 0.00002
NM_001365536.1(SCN9A):c.8T>A (p.Met3Lys) rs774249327 0.00002
NM_001365536.1(SCN9A):c.164C>A (p.Ala55Asp) rs1222851635 0.00001
NM_001365536.1(SCN9A):c.185T>C (p.Ile62Thr) rs886681700 0.00001
NM_001365536.1(SCN9A):c.188A>G (p.Tyr63Cys) rs1698959401 0.00001
NM_001365536.1(SCN9A):c.191G>C (p.Gly64Ala) rs558889724 0.00001
NM_001365536.1(SCN9A):c.209T>C (p.Met70Thr) rs1329565373 0.00001
NM_001365536.1(SCN9A):c.20C>T (p.Pro7Leu) rs773012423 0.00001
NM_001365536.1(SCN9A):c.23G>C (p.Gly8Ala) rs747772882 0.00001
NM_001365536.1(SCN9A):c.258G>A (p.Lys86=) rs199940586 0.00001
NM_001365536.1(SCN9A):c.262T>C (p.Phe88Leu) rs1012999498 0.00001
NM_001365536.1(SCN9A):c.268G>C (p.Val90Leu) rs1210236497 0.00001
NM_001365536.1(SCN9A):c.300C>G (p.Phe100Leu) rs1698783279 0.00001
NM_001365536.1(SCN9A):c.304G>T (p.Ala102Ser) rs201343843 0.00001
NM_001365536.1(SCN9A):c.354A>G (p.Ile118Met) rs202014643 0.00001
NM_001365536.1(SCN9A):c.359T>C (p.Ile120Thr) rs1698779985 0.00001
NM_001365536.1(SCN9A):c.371T>C (p.Val124Ala) rs202241586 0.00001
NM_001365536.1(SCN9A):c.377+5C>T rs200972952 0.00001
NM_001365536.1(SCN9A):c.378C>T (p.Ser126=) rs1392264337 0.00001
NM_001365536.1(SCN9A):c.41A>C (p.His14Pro) rs201000497 0.00001
NM_001365536.1(SCN9A):c.434T>C (p.Met145Thr) rs200815709 0.00001
NM_001365536.1(SCN9A):c.446C>T (p.Pro149Leu) rs121908921 0.00001
NM_001365536.1(SCN9A):c.447G>A (p.Pro149=) rs539907650 0.00001
NM_001365536.1(SCN9A):c.470A>C (p.Tyr157Ser) rs1425019963 0.00001
NM_001365536.1(SCN9A):c.560C>T (p.Pro187Leu) rs771227297 0.00001
NM_001365536.1(SCN9A):c.596C>T (p.Ala199Val) rs370472054 0.00001
NM_001365536.1(SCN9A):c.628G>A (p.Val210Ile) rs200619065 0.00001
NM_001365536.1(SCN9A):c.706G>A (p.Gly236Arg) rs1698638465 0.00001
NM_001365536.1(SCN9A):c.714G>T (p.Leu238Phe) rs1259872053 0.00001
NM_001365536.1(SCN9A):c.724G>C (p.Val242Leu) rs200011236 0.00001
NM_001365536.1(SCN9A):c.748A>G (p.Ile250Val) rs915276163 0.00001
NM_001365536.1(SCN9A):c.772G>A (p.Val258Met) rs1315605952 0.00001
NM_001365536.1(SCN9A):c.773T>G (p.Val258Gly) rs757286231 0.00001
NM_001365536.1(SCN9A):c.785T>C (p.Ile262Thr) rs576712624 0.00001
NM_001365536.1(SCN9A):c.796C>A (p.Leu266Met) rs201743233 0.00001
NM_001365536.1(SCN9A):c.802A>G (p.Met268Val) rs766933679 0.00001
NM_001365536.1(SCN9A):c.877C>A (p.Leu293Ile) rs780316047 0.00001
NM_001365536.1(SCN9A):c.901+5G>C rs756005334 0.00001
NM_001365536.1(SCN9A):c.92A>T (p.Lys31Ile) rs920979487 0.00001
NC_000002.11:g.(?_167055182)_(167143153_?)dup
NC_000002.11:g.(?_167083067)_(167089982_?)del
NC_000002.11:g.(?_167089840)_(167089982_?)del
NC_000002.11:g.(?_167128889)_(167129405_?)del
NC_000002.11:g.(?_167160728)_(167168266_?)dup
NM_001365536.1(SCN9A):c.100G>A (p.Glu34Lys)
NM_001365536.1(SCN9A):c.109GAA[1] (p.Glu38del) rs962551370
NM_001365536.1(SCN9A):c.116A>G (p.Lys39Arg) rs773030286
NM_001365536.1(SCN9A):c.117G>T (p.Lys39Asn) rs1574913597
NM_001365536.1(SCN9A):c.121G>A (p.Asp41Asn) rs529727269
NM_001365536.1(SCN9A):c.122A>G (p.Asp41Gly)
NM_001365536.1(SCN9A):c.125A>G (p.Asp42Gly)
NM_001365536.1(SCN9A):c.125A>T (p.Asp42Val)
NM_001365536.1(SCN9A):c.126T>A (p.Asp42Glu) rs371884028
NM_001365536.1(SCN9A):c.127G>A (p.Asp43Asn)
NM_001365536.1(SCN9A):c.131AAG[1] (p.Glu45del) rs1198936365
NM_001365536.1(SCN9A):c.133G>A (p.Glu45Lys)
NM_001365536.1(SCN9A):c.142A>G (p.Lys48Glu) rs2105226773
NM_001365536.1(SCN9A):c.149G>C (p.Ser50Thr)
NM_001365536.1(SCN9A):c.163G>C (p.Ala55Pro)
NM_001365536.1(SCN9A):c.164C>G (p.Ala55Gly)
NM_001365536.1(SCN9A):c.179C>G (p.Pro60Arg) rs1574913467
NM_001365536.1(SCN9A):c.182T>A (p.Phe61Tyr) rs1698959890
NM_001365536.1(SCN9A):c.187T>A (p.Tyr63Asn)
NM_001365536.1(SCN9A):c.191G>A (p.Gly64Glu)
NM_001365536.1(SCN9A):c.193G>A (p.Asp65Asn)
NM_001365536.1(SCN9A):c.195C>G (p.Asp65Glu)
NM_001365536.1(SCN9A):c.197T>C (p.Ile66Thr)
NM_001365536.1(SCN9A):c.199C>T (p.Pro67Ser) rs1354932910
NM_001365536.1(SCN9A):c.202C>T (p.Pro68Ser)
NM_001365536.1(SCN9A):c.20C>A (p.Pro7Gln) rs773012423
NM_001365536.1(SCN9A):c.210G>A (p.Met70Ile) rs1574913387
NM_001365536.1(SCN9A):c.211G>A (p.Val71Met)
NM_001365536.1(SCN9A):c.217G>A (p.Glu73Lys)
NM_001365536.1(SCN9A):c.232T>G (p.Leu78Val) rs1553497961
NM_001365536.1(SCN9A):c.238C>T (p.Pro80Ser) rs768587771
NM_001365536.1(SCN9A):c.239C>T (p.Pro80Leu) rs2105226335
NM_001365536.1(SCN9A):c.248C>T (p.Ala83Val)
NM_001365536.1(SCN9A):c.252C>A (p.Asp84Glu) rs752915464
NM_001365536.1(SCN9A):c.253A>G (p.Lys85Glu) rs200885240
NM_001365536.1(SCN9A):c.258+3G>T
NM_001365536.1(SCN9A):c.259-13T>C
NM_001365536.1(SCN9A):c.260C>A (p.Thr87Asn)
NM_001365536.1(SCN9A):c.265A>T (p.Ile89Leu)
NM_001365536.1(SCN9A):c.267A>G (p.Ile89Met)
NM_001365536.1(SCN9A):c.280G>A (p.Gly94Arg)
NM_001365536.1(SCN9A):c.281G>A (p.Gly94Glu)
NM_001365536.1(SCN9A):c.293T>A (p.Phe98Tyr) rs1698783802
NM_001365536.1(SCN9A):c.296G>A (p.Arg99His) rs1292303985
NM_001365536.1(SCN9A):c.308C>T (p.Thr103Ile)
NM_001365536.1(SCN9A):c.318A>T (p.Leu106Phe) rs903367077
NM_001365536.1(SCN9A):c.320A>G (p.Tyr107Cys)
NM_001365536.1(SCN9A):c.322A>G (p.Met108Val)
NM_001365536.1(SCN9A):c.32G>A (p.Ser11Asn)
NM_001365536.1(SCN9A):c.331C>G (p.Pro111Ala) rs748725716
NM_001365536.1(SCN9A):c.355T>C (p.Ser119Pro)
NM_001365536.1(SCN9A):c.356C>G (p.Ser119Cys) rs1574907229
NM_001365536.1(SCN9A):c.358A>G (p.Ile120Val) rs201217172
NM_001365536.1(SCN9A):c.363G>T (p.Lys121Asn) rs1252818338
NM_001365536.1(SCN9A):c.364A>G (p.Ile122Val)
NM_001365536.1(SCN9A):c.373C>T (p.His125Tyr)
NM_001365536.1(SCN9A):c.377+5C>A
NM_001365536.1(SCN9A):c.378-1C>T rs1309621904
NM_001365536.1(SCN9A):c.378-3T>G
NM_001365536.1(SCN9A):c.378-6A>C
NM_001365536.1(SCN9A):c.37G>A (p.Val13Ile) rs779738791
NM_001365536.1(SCN9A):c.381A>T (p.Leu127Phe) rs1574906679
NM_001365536.1(SCN9A):c.394A>G (p.Ile132Val)
NM_001365536.1(SCN9A):c.398T>C (p.Met133Thr)
NM_001365536.1(SCN9A):c.400T>A (p.Cys134Ser) rs779079123
NM_001365536.1(SCN9A):c.417C>A (p.Asn139Lys) rs1553496443
NM_001365536.1(SCN9A):c.41A>G (p.His14Arg)
NM_001365536.1(SCN9A):c.424T>C (p.Phe142Leu)
NM_001365536.1(SCN9A):c.428T>C (p.Met143Thr) rs2106527292
NM_001365536.1(SCN9A):c.431C>T (p.Thr144Ile) rs748032198
NM_001365536.1(SCN9A):c.438T>A (p.Asn146Lys)
NM_001365536.1(SCN9A):c.439A>C (p.Asn147His)
NM_001365536.1(SCN9A):c.443_444delinsAG (p.Pro148Gln)
NM_001365536.1(SCN9A):c.443_444inv (p.Pro148Leu)
NM_001365536.1(SCN9A):c.446C>A (p.Pro149Gln) rs121908921
NM_001365536.1(SCN9A):c.450C>A (p.Asp150Glu) rs1559030500
NM_001365536.1(SCN9A):c.467+13A>G rs2106527148
NM_001365536.1(SCN9A):c.467+6T>C rs1366570582
NM_001365536.1(SCN9A):c.468-15_468-8del rs780347157
NM_001365536.1(SCN9A):c.468G>A (p.Glu156=)
NM_001365536.1(SCN9A):c.470A>G (p.Tyr157Cys) rs1425019963
NM_001365536.1(SCN9A):c.479C>G (p.Thr160Ser) rs1242250274
NM_001365536.1(SCN9A):c.482G>C (p.Gly161Ala) rs1559030033
NM_001365536.1(SCN9A):c.484A>C (p.Ile162Leu)
NM_001365536.1(SCN9A):c.491C>T (p.Thr164Ile)
NM_001365536.1(SCN9A):c.496G>A (p.Glu166Lys) rs1553496214
NM_001365536.1(SCN9A):c.4G>A (p.Ala2Thr) rs199841742
NM_001365536.1(SCN9A):c.515T>C (p.Leu172Pro) rs2106526316
NM_001365536.1(SCN9A):c.523G>A (p.Gly175Ser)
NM_001365536.1(SCN9A):c.528C>G (p.Phe176Leu)
NM_001365536.1(SCN9A):c.529T>A (p.Cys177Ser) rs1698738037
NM_001365536.1(SCN9A):c.536G>T (p.Gly179Val) rs553375250
NM_001365536.1(SCN9A):c.53A>T (p.Gln18Leu) rs1319079239
NM_001365536.1(SCN9A):c.540A>C (p.Glu180Asp)
NM_001365536.1(SCN9A):c.545C>T (p.Thr182Ile)
NM_001365536.1(SCN9A):c.54G>C (p.Gln18His) rs1404773417
NM_001365536.1(SCN9A):c.553C>A (p.Arg185Ser)
NM_001365536.1(SCN9A):c.556G>A (p.Asp186Asn) rs1698736573
NM_001365536.1(SCN9A):c.559C>A (p.Pro187Thr) rs774694132
NM_001365536.1(SCN9A):c.559C>T (p.Pro187Ser) rs774694132
NM_001365536.1(SCN9A):c.567C>G (p.Asn189Lys)
NM_001365536.1(SCN9A):c.581T>A (p.Val194Asp) rs1574905392
NM_001365536.1(SCN9A):c.583G>A (p.Val195Ile) rs775461240
NM_001365536.1(SCN9A):c.586A>G (p.Ile196Val) rs1698734869
NM_001365536.1(SCN9A):c.586A>T (p.Ile196Phe) rs1698734869
NM_001365536.1(SCN9A):c.596+4_596+7del rs1574905327
NM_001365536.1(SCN9A):c.597-3C>A
NM_001365536.1(SCN9A):c.597G>C (p.Ala199=) rs2106524115
NM_001365536.1(SCN9A):c.597G>T (p.Ala199=)
NM_001365536.1(SCN9A):c.5C>T (p.Ala2Val)
NM_001365536.1(SCN9A):c.617A>G (p.Asn206Ser)
NM_001365536.1(SCN9A):c.619C>A (p.Leu207Ile)
NM_001365536.1(SCN9A):c.626A>G (p.Asn209Ser) rs1698680165
NM_001365536.1(SCN9A):c.62C>T (p.Ala21Val) rs1458587448
NM_001365536.1(SCN9A):c.634G>A (p.Ala212Thr) rs1698679868
NM_001365536.1(SCN9A):c.637C>G (p.Leu213Val)
NM_001365536.1(SCN9A):c.641G>T (p.Arg214Leu)
NM_001365536.1(SCN9A):c.64C>G (p.Leu22Val) rs978057086
NM_001365536.1(SCN9A):c.64C>T (p.Leu22Phe)
NM_001365536.1(SCN9A):c.650_651delinsCT (p.Arg217Thr)
NM_001365536.1(SCN9A):c.652G>A (p.Val218Ile)
NM_001365536.1(SCN9A):c.65T>C (p.Leu22Pro) rs754046765
NM_001365536.1(SCN9A):c.667A>G (p.Lys223Glu)
NM_001365536.1(SCN9A):c.67A>C (p.Ile23Leu) rs2105227146
NM_001365536.1(SCN9A):c.67A>T (p.Ile23Phe)
NM_001365536.1(SCN9A):c.689G>A (p.Gly230Asp)
NM_001365536.1(SCN9A):c.68T>A (p.Ile23Asn) rs1389373425
NM_001365536.1(SCN9A):c.704T>C (p.Val235Ala)
NM_001365536.1(SCN9A):c.715A>G (p.Ile239Val) rs1574901456
NM_001365536.1(SCN9A):c.720G>T (p.Gln240His)
NM_001365536.1(SCN9A):c.733C>A (p.Leu245Ile)
NM_001365536.1(SCN9A):c.739G>A (p.Asp247Asn) rs374102129
NM_001365536.1(SCN9A):c.739G>C (p.Asp247His) rs374102129
NM_001365536.1(SCN9A):c.742G>T (p.Val248Phe)
NM_001365536.1(SCN9A):c.745A>G (p.Met249Val) rs1553495224
NM_001365536.1(SCN9A):c.745A>T (p.Met249Leu) rs1553495224
NM_001365536.1(SCN9A):c.757G>A (p.Val253Met)
NM_001365536.1(SCN9A):c.775T>C (p.Phe259Leu) rs2106522359
NM_001365536.1(SCN9A):c.77G>A (p.Arg26His) rs111404258
NM_001365536.1(SCN9A):c.77G>C (p.Arg26Pro) rs111404258
NM_001365536.1(SCN9A):c.77G>T (p.Arg26Leu)
NM_001365536.1(SCN9A):c.786T>G (p.Ile262Met) rs2106522346
NM_001365536.1(SCN9A):c.794A>G (p.Gln265Arg) rs760189302
NM_001365536.1(SCN9A):c.811C>A (p.Leu271Met)
NM_001365536.1(SCN9A):c.814A>G (p.Lys272Glu)
NM_001365536.1(SCN9A):c.838C>T (p.Leu280Phe) rs770205263
NM_001365536.1(SCN9A):c.854C>T (p.Thr285Ile) rs1574901070
NM_001365536.1(SCN9A):c.865A>G (p.Ile289Val) rs2106522168
NM_001365536.1(SCN9A):c.866T>C (p.Ile289Thr)
NM_001365536.1(SCN9A):c.869T>C (p.Met290Thr)
NM_001365536.1(SCN9A):c.878T>A (p.Leu293Gln) rs2106522124
NM_001365536.1(SCN9A):c.880G>A (p.Glu294Lys) rs1553495086
NM_001365536.1(SCN9A):c.900A>G (p.Arg300=) rs1553495057
NM_001365536.1(SCN9A):c.901+4A>C rs1698626784
NM_001365536.1(SCN9A):c.94T>A (p.Ser32Thr) rs2105227008
NM_001365536.1(SCN9A):c.98A>G (p.Lys33Arg)

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