ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 207
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HGVS dbSNP gnomAD frequency
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.3832C>G (p.Leu1278Val) rs180922748 0.00174
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.3509T>C (p.Ile1170Thr) rs73019664 0.00128
NM_001365536.1(SCN9A):c.5791G>C (p.Asp1931His) rs200410805 0.00121
NM_001365536.1(SCN9A):c.*1770A>C rs200353065 0.00115
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.1109C>T (p.Thr370Met) rs200391162 0.00068
NM_001365536.1(SCN9A):c.3329C>T (p.Ser1110Leu) rs145258166 0.00066
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.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.2422T>C (p.Trp808Arg) rs147639592 0.00046
NM_001365536.1(SCN9A):c.2005C>T (p.Arg669Cys) rs200174262 0.00038
NM_001365536.1(SCN9A):c.3759T>C (p.Tyr1253=) rs201640757 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.4495C>A (p.Arg1499=) rs187558439 0.00019
NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=) rs184773311 0.00017
NM_001365536.1(SCN9A):c.2220T>G (p.Ile740Met) rs375688386 0.00016
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643 0.00014
NM_001365536.1(SCN9A):c.1286G>A (p.Arg429His) rs367556839 0.00013
NM_001365536.1(SCN9A):c.1675G>A (p.Gly559Ser) rs201569378 0.00013
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) rs200470541 0.00012
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.1554C>T (p.Val518=) rs201054032 0.00009
NM_001365536.1(SCN9A):c.2085A>G (p.Ile695Met) rs199588089 0.00009
NM_001365536.1(SCN9A):c.3157C>T (p.Leu1053Phe) rs374531355 0.00009
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) rs200817435 0.00009
NM_001365536.1(SCN9A):c.4305T>G (p.Ile1435Met) rs200479892 0.00009
NM_001365536.1(SCN9A):c.1744G>A (p.Glu582Lys) rs201391809 0.00008
NM_001365536.1(SCN9A):c.3028A>G (p.Ile1010Val) rs375510818 0.00008
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.5945A>T (p.Asp1982Val) rs199822303 0.00006
NM_001365536.1(SCN9A):c.5956A>G (p.Ser1986Gly) rs200785571 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.3125C>T (p.Thr1042Ile) rs757989638 0.00005
NM_001365536.1(SCN9A):c.4142G>A (p.Arg1381Gln) rs202050216 0.00005
NM_001365536.1(SCN9A):c.902-2A>C rs773824421 0.00005
NM_001365536.1(SCN9A):c.1303G>A (p.Glu435Lys) rs775475997 0.00004
NM_001365536.1(SCN9A):c.1331C>T (p.Ala444Val) rs143430080 0.00004
NM_001365536.1(SCN9A):c.1714G>A (p.Asp572Asn) rs747040987 0.00004
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His) rs201318927 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.4177G>A (p.Gly1393Arg) rs200371160 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.2304G>A (p.Met768Ile) rs201736678 0.00003
NM_001365536.1(SCN9A):c.2647G>T (p.Val883Phe) rs369148683 0.00003
NM_001365536.1(SCN9A):c.2650G>A (p.Gly884Ser) rs202177070 0.00003
NM_001365536.1(SCN9A):c.2874+4T>C rs372584040 0.00003
NM_001365536.1(SCN9A):c.3038C>A (p.Ala1013Glu) rs202153871 0.00003
NM_001365536.1(SCN9A):c.4156A>C (p.Lys1386Gln) rs199902747 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.1238T>C (p.Ile413Thr) rs200689195 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.2649C>T (p.Val883=) rs200618289 0.00002
NM_001365536.1(SCN9A):c.3598C>T (p.Leu1200Phe) rs201233540 0.00002
NM_001365536.1(SCN9A):c.4941C>T (p.Ile1647=) rs747837371 0.00002
NM_001365536.1(SCN9A):c.1149C>T (p.Val383=) rs794726989 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.1314+7T>C rs371482199 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.2105-8T>A rs1471044025 0.00001
NM_001365536.1(SCN9A):c.2191A>G (p.Ile731Val) rs1574857096 0.00001
NM_001365536.1(SCN9A):c.2316C>A (p.Phe772Leu) rs774613581 0.00001
NM_001365536.1(SCN9A):c.2330C>T (p.Ala777Val) rs749482425 0.00001
NM_001365536.1(SCN9A):c.2332A>G (p.Ile778Val) rs544352696 0.00001
NM_001365536.1(SCN9A):c.2365G>A (p.Ala789Thr) rs1060502052 0.00001
NM_001365536.1(SCN9A):c.2504G>A (p.Arg835Gln) rs375375336 0.00001
NM_001365536.1(SCN9A):c.2767G>A (p.Val923Met) rs746356598 0.00001
NM_001365536.1(SCN9A):c.2779G>A (p.Glu927Lys) rs202097398 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.3123T>A (p.His1041Gln) rs1478449852 0.00001
NM_001365536.1(SCN9A):c.3448G>A (p.Glu1150Lys) rs367794835 0.00001
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) rs750839038 0.00001
NM_001365536.1(SCN9A):c.3868C>T (p.Arg1290Trp) rs763423536 0.00001
NM_001365536.1(SCN9A):c.4043A>G (p.Tyr1348Cys) rs587780456 0.00001
NM_001365536.1(SCN9A):c.4105G>A (p.Glu1369Lys) rs1298235055 0.00001
NM_001365536.1(SCN9A):c.4163A>G (p.Asn1388Ser) rs923385288 0.00001
NM_001365536.1(SCN9A):c.4197G>A (p.Leu1399=) rs201258222 0.00001
NM_001365536.1(SCN9A):c.4358T>C (p.Ile1453Thr) rs1558963758 0.00001
NM_001365536.1(SCN9A):c.4368C>T (p.Ile1456=) rs1362318488 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.5157A>T (p.Lys1719Asn) rs749848631 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.5425C>G (p.Leu1809Val) rs199954555 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.5750T>C (p.Ile1917Thr) rs200876442 0.00001
NM_001365536.1(SCN9A):c.5954A>G (p.Glu1985Gly) rs755850299 0.00001
GRCh37/hg19 2q24.3(chr2:166937534-167234294)x3
NM_001365536.1(SCN9A):c.1022A>G (p.Tyr341Cys) rs374280444
NM_001365536.1(SCN9A):c.1028G>A (p.Ser343Asn) rs550153663
NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu) rs746956041
NM_001365536.1(SCN9A):c.1286_1287delinsAA (p.Arg429Gln) rs1064797268
NM_001365536.1(SCN9A):c.1288C>A (p.Leu430Ile)
NM_001365536.1(SCN9A):c.1314+4C>T rs1005102263
NM_001365536.1(SCN9A):c.1336G>A (p.Glu446Lys) rs1175228324
NM_001365536.1(SCN9A):c.1502C>T (p.Ser501Leu)
NM_001365536.1(SCN9A):c.1756G>A (p.Gly586Ser) rs754646586
NM_001365536.1(SCN9A):c.1757G>A (p.Gly586Asp) rs1574864414
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.2073T>G (p.Ser691Arg) rs1697496394
NM_001365536.1(SCN9A):c.2104+7A>G rs886042850
NM_001365536.1(SCN9A):c.2113G>A (p.Glu705Lys)
NM_001365536.1(SCN9A):c.2135C>T (p.Pro712Leu) rs867106113
NM_001365536.1(SCN9A):c.2146A>C (p.Arg716=) rs1177414657
NM_001365536.1(SCN9A):c.2152G>T (p.Ala718Ser)
NM_001365536.1(SCN9A):c.2322T>A (p.Asn774Lys) rs1263970900
NM_001365536.1(SCN9A):c.2387T>C (p.Ile796Thr) rs2106471480
NM_001365536.1(SCN9A):c.2467C>G (p.Leu823Val) rs1029813878
NM_001365536.1(SCN9A):c.2518-10T>G rs879254177
NM_001365536.1(SCN9A):c.2538A>G (p.Ala846=) rs922811520
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.3223G>A (p.Asp1075Asn)
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.3420A>C (p.Glu1140Asp) rs201049193
NM_001365536.1(SCN9A):c.3478G>A (p.Val1160Ile) rs1369161781
NM_001365536.1(SCN9A):c.3599T>A (p.Leu1200His) rs1342493346
NM_001365536.1(SCN9A):c.3608T>C (p.Leu1203Pro)
NM_001365536.1(SCN9A):c.3627+8A>T rs1553482000
NM_001365536.1(SCN9A):c.3632T>C (p.Phe1211Ser) rs2106403732
NM_001365536.1(SCN9A):c.3706A>G (p.Ile1236Val) rs1207290572
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.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.4211C>A (p.Thr1404Asn) rs201880500
NM_001365536.1(SCN9A):c.4222T>C (p.Trp1408Arg)
NM_001365536.1(SCN9A):c.4228A>T (p.Ile1410Phe) rs199996056
NM_001365536.1(SCN9A):c.4260+3A>G
NM_001365536.1(SCN9A):c.4343C>T (p.Thr1448Ile)
NM_001365536.1(SCN9A):c.4370T>C (p.Ile1457Thr) rs1694849428
NM_001365536.1(SCN9A):c.4399-10G>C
NM_001365536.1(SCN9A):c.4413C>T (p.Asp1471=) rs727504144
NM_001365536.1(SCN9A):c.4476G>T (p.Lys1492Asn) rs879253974
NM_001365536.1(SCN9A):c.4533A>G (p.Leu1511=) rs545627123
NM_001365536.1(SCN9A):c.4556T>C (p.Ile1519Thr)
NM_001365536.1(SCN9A):c.4597A>T (p.Met1533Leu) rs2106346393
NM_001365536.1(SCN9A):c.4630A>C (p.Thr1544Pro) rs1228583442
NM_001365536.1(SCN9A):c.4827C>G (p.Phe1609Leu) rs760606370
NM_001365536.1(SCN9A):c.4904T>C (p.Phe1635Ser) rs879254053
NM_001365536.1(SCN9A):c.5086A>T (p.Thr1696Ser) rs879254140
NM_001365536.1(SCN9A):c.5146G>A (p.Asp1716Asn) rs1693375977
NM_001365536.1(SCN9A):c.5235C>A (p.Ile1745=) rs794727440
NM_001365536.1(SCN9A):c.5251G>C (p.Val1751Leu) rs879253908
NM_001365536.1(SCN9A):c.5254G>C (p.Val1752Leu) rs1064797267
NM_001365536.1(SCN9A):c.5269G>A (p.Ala1757Thr)
NM_001365536.1(SCN9A):c.5371C>A (p.Pro1791Thr) rs1693360658
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.5873_5874del (p.Ser1957_Tyr1958insTer) rs778976900
NM_001365536.1(SCN9A):c.5949C>G (p.Ser1983Arg) rs201640210
NM_001365536.1(SCN9A):c.5963A>T (p.Lys1988Ile) rs780795130
NM_001365536.1(SCN9A):c.935C>T (p.Ala312Val)

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