ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.4774+16T>A rs10180721 0.89276
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_001365536.1(SCN9A):c.2105-14C>T rs6432893 0.56480
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38348
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38341
NM_001365536.1(SCN9A):c.2105-15G>A rs4525717 0.12980
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06754
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06646
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962 0.04390
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960 0.02262
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463 0.00460
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) rs202055175 0.00341
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764 0.00304
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=) rs201145311 0.00263
NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr) rs151241025 0.00216
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00180
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg) rs202084411 0.00173
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_001365536.1(SCN9A):c.3051G>C (p.Lys1017Asn) rs147623238 0.00149
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869 0.00141
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr) rs73019664 0.00128
NM_001365536.1(SCN9A):c.2409T>C (p.Tyr803=) rs142219317 0.00106
NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=) rs200065104 0.00102
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=) rs111674454 0.00099
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=) rs199653503 0.00096
NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser) rs184563685 0.00081
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) rs188145203 0.00077
NM_001365536.1(SCN9A):c.1109C>T (p.Thr370Met) rs200391162 0.00068
NM_001365536.1(SCN9A):c.3329C>T (p.Ser1110Leu) rs145258166 0.00066
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064 0.00061
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458 0.00059
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572 0.00059
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354 0.00056
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe) rs200160858 0.00052
NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg) rs200560768 0.00048
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) rs200415928 0.00046
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=) rs202047865 0.00043
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) rs199550149 0.00041
NM_001365536.1(SCN9A):c.2005C>T (p.Arg669Cys) rs200174262 0.00038
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725 0.00035
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=) rs201430964 0.00032
NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly) rs201984007 0.00025
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315 0.00023
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_001365536.1(SCN9A):c.4110T>C (p.Cys1370=) rs199673396 0.00019
NM_001365536.1(SCN9A):c.2344-20A>T rs199905079 0.00018
NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=) rs184773311 0.00017
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=) rs202002028 0.00016
NM_001365536.1(SCN9A):c.2220T>G (p.Ile740Met) rs375688386 0.00016
NM_001365536.1(SCN9A):c.3573C>T (p.His1191=) rs375710841 0.00016
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643 0.00014
NM_001365536.1(SCN9A):c.3228T>A (p.Gly1076=) rs200393050 0.00014
NM_001365536.1(SCN9A):c.1675G>A (p.Gly559Ser) rs201569378 0.00013
NM_001365536.1(SCN9A):c.1099T>C (p.Tyr367His) rs200457046 0.00011
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter) rs759003928 0.00011
NM_001365536.1(SCN9A):c.3207C>T (p.His1069=) rs200689065 0.00010
NM_001365536.1(SCN9A):c.965+13T>C rs772337722 0.00010
NM_001365536.1(SCN9A):c.2085A>G (p.Ile695Met) rs199588089 0.00009
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser) rs187526567 0.00009
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) rs200817435 0.00009
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025 0.00009
NM_001365536.1(SCN9A):c.3028A>G (p.Ile1010Val) rs375510818 0.00008
NM_001365536.1(SCN9A):c.2634C>T (p.Phe878=) rs188678956 0.00007
NM_001365536.1(SCN9A):c.3802-13del rs747729984 0.00007
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr) rs202235611 0.00007
NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser) rs192406412 0.00006
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) rs200374987 0.00006
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671 0.00006
NM_001365536.1(SCN9A):c.3301A>G (p.Met1101Val) rs201699621 0.00006
NM_001365536.1(SCN9A):c.4892G>T (p.Arg1631Leu) rs201079869 0.00006
NM_001365536.1(SCN9A):c.1115G>A (p.Arg372His) rs201071819 0.00005
NM_001365536.1(SCN9A):c.1135A>G (p.Met379Val) rs544004654 0.00005
NM_001365536.1(SCN9A):c.1975-8T>A rs752961542 0.00005
NM_001365536.1(SCN9A):c.2299C>A (p.Pro767Thr) rs199715588 0.00005
NM_001365536.1(SCN9A):c.902-2A>C rs773824421 0.00005
NM_001365536.1(SCN9A):c.1331C>T (p.Ala444Val) rs143430080 0.00004
NM_001365536.1(SCN9A):c.2242C>G (p.Leu748Val) rs764893083 0.00004
NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser) rs200624920 0.00004
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) rs202152511 0.00004
NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu) rs201354321 0.00003
NM_001365536.1(SCN9A):c.1660C>A (p.Leu554Ile) rs201994523 0.00003
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240 0.00003
NM_001365536.1(SCN9A):c.3038C>A (p.Ala1013Glu) rs202153871 0.00003
NM_001365536.1(SCN9A):c.3540C>T (p.Asn1180=) rs766241126 0.00003
NM_001365536.1(SCN9A):c.4289G>A (p.Ser1430Asn) rs201479177 0.00003
NM_001365536.1(SCN9A):c.5140G>A (p.Asp1714Asn) rs200733722 0.00003
NM_001365536.1(SCN9A):c.5699A>T (p.Tyr1900Phe) rs201796657 0.00003
NM_001365536.1(SCN9A):c.966-8G>A rs199942413 0.00003
NM_001365536.1(SCN9A):c.1602+15G>T rs201987507 0.00002
NM_001365536.1(SCN9A):c.1603T>G (p.Ser535Ala) rs774903062 0.00002
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His) rs199748300 0.00002
NM_001365536.1(SCN9A):c.1650C>G (p.Ser550Arg) rs200192044 0.00002
NM_001365536.1(SCN9A):c.2004G>T (p.Arg668Ser) rs200970256 0.00002
NM_001365536.1(SCN9A):c.2166G>C (p.Leu722Phe) rs772492538 0.00002
NM_001365536.1(SCN9A):c.3598C>T (p.Leu1200Phe) rs201233540 0.00002
NM_001365536.1(SCN9A):c.4261-13G>C rs745685331 0.00002
NM_001365536.1(SCN9A):c.5586G>A (p.Gln1862=) rs199572382 0.00002
NM_001365536.1(SCN9A):c.1107+7A>G rs199623041 0.00001
NM_001365536.1(SCN9A):c.1154T>G (p.Val385Gly) rs202159091 0.00001
NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr) rs199986805 0.00001
NM_001365536.1(SCN9A):c.1304A>C (p.Glu435Ala) rs201396897 0.00001
NM_001365536.1(SCN9A):c.1309G>A (p.Ala437Thr) rs759299867 0.00001
NM_001365536.1(SCN9A):c.1314+3A>T rs774219473 0.00001
NM_001365536.1(SCN9A):c.1726A>G (p.Ser576Gly) rs202090277 0.00001
NM_001365536.1(SCN9A):c.1792C>T (p.Arg598Cys) rs200065703 0.00001
NM_001365536.1(SCN9A):c.1826C>T (p.Pro609Leu) rs1298846957 0.00001
NM_001365536.1(SCN9A):c.1901G>A (p.Arg634His) rs774510851 0.00001
NM_001365536.1(SCN9A):c.2253C>T (p.Thr751=) rs751536693 0.00001
NM_001365536.1(SCN9A):c.2316C>A (p.Phe772Leu) rs774613581 0.00001
NM_001365536.1(SCN9A):c.2712G>A (p.Thr904=) rs200494981 0.00001
NM_001365536.1(SCN9A):c.2815G>A (p.Ala939Thr) rs1064793264 0.00001
NM_001365536.1(SCN9A):c.2840T>C (p.Val947Ala) rs1395440338 0.00001
NM_001365536.1(SCN9A):c.2930C>G (p.Thr977Arg) rs1369602144 0.00001
NM_001365536.1(SCN9A):c.3036A>G (p.Lys1012=) rs200375962 0.00001
NM_001365536.1(SCN9A):c.3448G>A (p.Glu1150Lys) rs367794835 0.00001
NM_001365536.1(SCN9A):c.3807T>A (p.Ser1269=) rs1272510761 0.00001
NM_001365536.1(SCN9A):c.4163A>G (p.Asn1388Ser) rs923385288 0.00001
NM_001365536.1(SCN9A):c.4358T>C (p.Ile1453Thr) rs1558963758 0.00001
NM_001365536.1(SCN9A):c.4503+1G>T rs746241591 0.00001
NM_001365536.1(SCN9A):c.4621C>A (p.Gln1541Lys) rs1064796825 0.00001
NM_001365536.1(SCN9A):c.4865G>A (p.Arg1622His) rs1346697903 0.00001
NM_001365536.1(SCN9A):c.4965G>T (p.Met1655Ile) rs200166620 0.00001
NM_001365536.1(SCN9A):c.5164C>T (p.Pro1722Ser) rs201264153 0.00001
NM_001365536.1(SCN9A):c.5207G>C (p.Gly1736Ala) rs776586182 0.00001
NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs) rs1553473041 0.00001
NM_001365536.1(SCN9A):c.5497G>A (p.Gly1833Ser) rs201638678 0.00001
NM_001365536.1(SCN9A):c.5563G>A (p.Glu1855Lys) rs876661248 0.00001
NM_001365536.1(SCN9A):c.5615C>T (p.Pro1872Leu) rs879254298 0.00001
NM_001365536.1(SCN9A):c.5954A>G (p.Glu1985Gly) rs755850299 0.00001
NM_001365536.1(SCN9A):c.984C>A (p.Tyr328Ter) rs121908917 0.00001
NM_001365536.1(SCN9A):c.1022A>G (p.Tyr341Cys) rs374280444
NM_001365536.1(SCN9A):c.1185C>G (p.Asn395Lys) rs80356471
NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu) rs746956041
NM_001365536.1(SCN9A):c.1288C>A (p.Leu430Ile)
NM_001365536.1(SCN9A):c.1756G>A (p.Gly586Ser) rs754646586
NM_001365536.1(SCN9A):c.1801A>C (p.Asn601His) rs2106483219
NM_001365536.1(SCN9A):c.1937C>G (p.Pro646Arg) rs2106482812
NM_001365536.1(SCN9A):c.1975-3dup rs35888674
NM_001365536.1(SCN9A):c.1999A>G (p.Lys667Glu) rs775090142
NM_001365536.1(SCN9A):c.2073T>G (p.Ser691Arg) rs1697496394
NM_001365536.1(SCN9A):c.2113G>A (p.Glu705Lys)
NM_001365536.1(SCN9A):c.2141G>A (p.Trp714Ter) rs1057518162
NM_001365536.1(SCN9A):c.2152G>T (p.Ala718Ser)
NM_001365536.1(SCN9A):c.2387T>C (p.Ile796Thr) rs2106471480
NM_001365536.1(SCN9A):c.2518-10T>G rs879254177
NM_001365536.1(SCN9A):c.2600G>A (p.Gly867Asp) rs879254102
NM_001365536.1(SCN9A):c.2874+11_2874+13delinsTT rs1553487749
NM_001365536.1(SCN9A):c.2875-18C>T rs1553486847
NM_001365536.1(SCN9A):c.2903T>C (p.Leu968Ser) rs1553486841
NM_001365536.1(SCN9A):c.2923A>T (p.Asn975Tyr) rs2106461476
NM_001365536.1(SCN9A):c.2975T>C (p.Val992Ala) rs1057524814
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys) rs121908910
NM_001365536.1(SCN9A):c.3169G>A (p.Asp1057Asn) rs370892430
NM_001365536.1(SCN9A):c.3289G>A (p.Asp1097Asn) rs768654039
NM_001365536.1(SCN9A):c.3322A>G (p.Ser1108Gly) rs758165714
NM_001365536.1(SCN9A):c.3351+15T>C rs763278343
NM_001365536.1(SCN9A):c.3420A>C (p.Glu1140Asp) rs201049193
NM_001365536.1(SCN9A):c.3478G>A (p.Val1160Ile) rs1369161781
NM_001365536.1(SCN9A):c.3632T>C (p.Phe1211Ser) rs2106403732
NM_001365536.1(SCN9A):c.3834T>G (p.Leu1278=) rs1553480111
NM_001365536.1(SCN9A):c.4009A>C (p.Ile1337Leu) rs543167736
NM_001365536.1(SCN9A):c.4073G>A (p.Arg1358Gln) rs200163716
NM_001365536.1(SCN9A):c.4141C>A (p.Arg1381=) rs748159444
NM_001365536.1(SCN9A):c.4171A>G (p.Asn1391Asp) rs2106387312
NM_001365536.1(SCN9A):c.4198C>A (p.Leu1400Ile) rs2106387233
NM_001365536.1(SCN9A):c.4206+6del rs1375669515
NM_001365536.1(SCN9A):c.4399-10_4399-7del rs77944059
NM_001365536.1(SCN9A):c.4476G>T (p.Lys1492Asn) rs879253974
NM_001365536.1(SCN9A):c.4495C>T (p.Arg1499Ter) rs187558439
NM_001365536.1(SCN9A):c.4507A>T (p.Lys1503Ter) rs876661206
NM_001365536.1(SCN9A):c.4556T>C (p.Ile1519Thr)
NM_001365536.1(SCN9A):c.4827C>G (p.Phe1609Leu) rs760606370
NM_001365536.1(SCN9A):c.4868T>C (p.Leu1623Pro) rs1131691776
NM_001365536.1(SCN9A):c.4904T>C (p.Phe1635Ser) rs879254053
NM_001365536.1(SCN9A):c.4928C>A (p.Ala1643Glu) rs879253994
NM_001365536.1(SCN9A):c.5086A>T (p.Thr1696Ser) rs879254140
NM_001365536.1(SCN9A):c.5118T>C (p.Pro1706=) rs2106337596
NM_001365536.1(SCN9A):c.5124T>C (p.Leu1708=) rs2106337580
NM_001365536.1(SCN9A):c.5146G>A (p.Asp1716Asn) rs1693375977
NM_001365536.1(SCN9A):c.5251G>C (p.Val1751Leu) rs879253908
NM_001365536.1(SCN9A):c.5269G>A (p.Ala1757Thr)
NM_001365536.1(SCN9A):c.5392G>T (p.Glu1798Ter) rs770416478
NM_001365536.1(SCN9A):c.5420C>G (p.Ala1807Gly) rs879254324
NM_001365536.1(SCN9A):c.5561G>A (p.Gly1854Glu) rs876661011
NM_001365536.1(SCN9A):c.5578C>T (p.Arg1860Cys) rs200494490
NM_001365536.1(SCN9A):c.5588T>C (p.Met1863Thr) rs201561928
NM_001365536.1(SCN9A):c.5738C>G (p.Ser1913Ter)
NM_001365536.1(SCN9A):c.5949C>G (p.Ser1983Arg) rs201640210
NM_001365536.1(SCN9A):c.965+18T>C rs1553492740
NM_001365536.1(SCN9A):c.966-2A>G rs1553492481

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