ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as benign for Primary erythromelalgia

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Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.4774+16T>A rs10180721 0.89276
NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg) rs6746030 0.87930
NM_001365536.1(SCN9A):c.1107+48C>T rs7588632 0.70514
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.*2640G>A rs13396526 0.43246
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.*2854T>C rs73017538 0.11196
NM_001365536.1(SCN9A):c.*1013C>T rs16851754 0.10746
NM_001365536.1(SCN9A):c.*1796C>T rs16851751 0.10742
NM_001365536.1(SCN9A):c.*2146G>C rs1062844 0.07204
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06754
NM_001365536.1(SCN9A):c.*1774G>A rs114843828 0.06654
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06646
NM_001365536.1(SCN9A):c.*2297A>T rs75345520 0.06645
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.*129C>T rs16851759 0.03731
NM_001365536.1(SCN9A):c.*1492C>G rs73017542 0.03296
NM_001365536.1(SCN9A):c.*2136C>G rs77050817 0.03222
NM_001365536.1(SCN9A):c.*1184T>G rs11902920 0.03035
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904 0.02756
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960 0.02262
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238 0.02210
NM_001365536.1(SCN9A):c.*2540C>T rs58249489 0.01556
NM_001365536.1(SCN9A):c.*3038C>T rs115766730 0.01421
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.*235T>C rs140553451 0.01263
NM_001365536.1(SCN9A):c.*2155G>A rs77565541 0.01260
NM_001365536.1(SCN9A):c.*204G>A rs111510277 0.01227
NM_001365536.1(SCN9A):c.*958C>T rs143727895 0.00990
NM_001365536.1(SCN9A):c.*377C>G rs115464654 0.00575
NM_001365536.1(SCN9A):c.*2323G>T rs142172527 0.00561
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_001365536.1(SCN9A):c.*2662G>A rs149873320 0.00457
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_001365536.1(SCN9A):c.*3426A>T rs186838828 0.00334
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_001365536.1(SCN9A):c.*2226T>G rs141310425 0.00306
NM_001365536.1(SCN9A):c.*2312A>T rs185580193 0.00248
NM_001365536.1(SCN9A):c.*2212T>C rs200750861 0.00201
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00180
NM_001365536.1(SCN9A):c.*2228G>T rs200790957 0.00177
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.3675C>A (p.Ile1225=) rs77144869 0.00141
NM_001365536.1(SCN9A):c.*785C>T rs181229506 0.00108
NM_001365536.1(SCN9A):c.*362C>T rs185832567 0.00092
NM_001365536.1(SCN9A):c.*2191G>A rs201184093 0.00091
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) rs188145203 0.00077
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.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.3801T>C (p.Asp1267=) rs202047865 0.00043
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) rs199550149 0.00041
NM_001365536.1(SCN9A):c.*3317A>G rs191667986 0.00039
NM_001365536.1(SCN9A):c.4399-14G>T rs112927502 0.00038
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725 0.00035
NM_001365536.1(SCN9A):c.*18A>G rs150401869 0.00026
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.3472+14T>C rs201979079 0.00017
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=) rs202002028 0.00016
NM_001365536.1(SCN9A):c.2875-6A>G rs760470229 0.00011
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter) rs759003928 0.00011
NM_001365536.1(SCN9A):c.965+13T>C rs772337722 0.00010
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser) rs187526567 0.00009
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025 0.00009
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr) rs202235611 0.00007
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671 0.00006
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=) rs201875421 0.00006
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) rs199822303 0.00006
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761 0.00005
NM_001365536.1(SCN9A):c.*125C>T rs200465050 0.00004
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240 0.00003
NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu) rs765818027 0.00003
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His) rs199748300 0.00002
NM_001365536.1(SCN9A):c.*217G>A rs200625860 0.00001
NM_001365536.1(SCN9A):c.*2721C>G rs199595958 0.00001
NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr) rs199986805 0.00001
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys) rs763256222 0.00001
NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala) rs201890077 0.00001
NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn) rs141040985 0.00001
NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=) rs372210358 0.00001
NM_001365536.1(SCN9A):c.*1660G>A rs16851753
NM_001365536.1(SCN9A):c.*2154C>G rs17804037
NM_001365536.1(SCN9A):c.*237C>G rs16851755
NM_001365536.1(SCN9A):c.*920T>A rs201424899
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.4399-10_4399-7del rs77944059

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