ClinVar Miner

Variants in gene combination SCN1A, SCN9A with conflicting interpretations reported as "likely benign and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 56
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
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.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.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.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
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.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.4356C>T (p.Phe1452=) rs201145311 0.00263
NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr) rs151241025 0.00216
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.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.2409T>C (p.Tyr803=) rs142219317 0.00106
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.2392A>G (p.Met798Val) rs149707354 0.00056
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
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.4399-14G>T rs112927502 0.00038
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725 0.00035
NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly) rs201984007 0.00025
NM_001365536.1(SCN9A):c.2344-20A>T rs199905079 0.00018
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.3207C>T (p.His1069=) rs200689065 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.*125C>T rs200465050 0.00004
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240 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.2852T>C (p.Val951Ala) rs201890077 0.00001
NM_001365536.1(SCN9A):c.*920T>A rs201424899
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365536.1(SCN9A):c.2874+11_2874+13delinsTT rs1553487749

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