ClinVar Miner

List of variants in gene combination SCN1A, SCN9A studied for Inherited Erythromelalgia

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Gene type:
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Total variants: 80
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HGVS dbSNP
NM_001365536.1(SCN9A):c.*1014G>A rs200393413
NM_001365536.1(SCN9A):c.*1118_*1119insCA rs140616949
NM_001365536.1(SCN9A):c.*1184T>G rs11902920
NM_001365536.1(SCN9A):c.*124A>G rs201137748
NM_001365536.1(SCN9A):c.*129C>T rs16851759
NM_001365536.1(SCN9A):c.*1357C>T rs200338267
NM_001365536.1(SCN9A):c.*1434dup rs199505193
NM_001365536.1(SCN9A):c.*1605T>C rs199848927
NM_001365536.1(SCN9A):c.*1605_*1606del rs200091138
NM_001365536.1(SCN9A):c.*1605del rs148459420
NM_001365536.1(SCN9A):c.*165_*167dup rs886055049
NM_001365536.1(SCN9A):c.*1796C>T rs16851751
NM_001365536.1(SCN9A):c.*18A>G rs150401869
NM_001365536.1(SCN9A):c.*1960_*1962dup rs202073550
NM_001365536.1(SCN9A):c.*204G>A rs111510277
NM_001365536.1(SCN9A):c.*2136C>G rs77050817
NM_001365536.1(SCN9A):c.*2146G>C rs1062844
NM_001365536.1(SCN9A):c.*2155G>A rs77565541
NM_001365536.1(SCN9A):c.*2222T>C rs199958892
NM_001365536.1(SCN9A):c.*2226T>G rs141310425
NM_001365536.1(SCN9A):c.*2228G>T rs200790957
NM_001365536.1(SCN9A):c.*2312A>T rs185580193
NM_001365536.1(SCN9A):c.*2344C>T rs200962814
NM_001365536.1(SCN9A):c.*235T>C rs140553451
NM_001365536.1(SCN9A):c.*244_*247dup rs143461219
NM_001365536.1(SCN9A):c.*2616_*2626del rs145255931
NM_001365536.1(SCN9A):c.*2662G>A rs149873320
NM_001365536.1(SCN9A):c.*2744del rs763459885
NM_001365536.1(SCN9A):c.*2854T>C rs73017538
NM_001365536.1(SCN9A):c.*2928G>A rs199559478
NM_001365536.1(SCN9A):c.*2986T>G rs201730339
NM_001365536.1(SCN9A):c.*3038C>T rs115766730
NM_001365536.1(SCN9A):c.*3102C>T rs182687583
NM_001365536.1(SCN9A):c.*3317A>G rs191667986
NM_001365536.1(SCN9A):c.*3426A>T rs186838828
NM_001365536.1(SCN9A):c.*416dup rs3834910
NM_001365536.1(SCN9A):c.*491del rs886055047
NM_001365536.1(SCN9A):c.*529_*530del rs140024416
NM_001365536.1(SCN9A):c.*771_*772dup rs144515054
NM_001365536.1(SCN9A):c.*798dup rs564394161
NM_001365536.1(SCN9A):c.*958C>T rs143727895
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203
NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn) rs188798505
NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu) rs746956041
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) rs201990547
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458
NM_001365536.1(SCN9A):c.1603-21dup rs200430382
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His) rs201318927
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761
NM_001365536.1(SCN9A):c.1975-12dup rs35888674
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365536.1(SCN9A):c.2105-14C>T rs6432893
NM_001365536.1(SCN9A):c.2105-15G>A rs4525717
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) rs202055175
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=) rs200185692
NM_001365536.1(SCN9A):c.2874+13del rs200434162
NM_001365536.1(SCN9A):c.2875-5del rs774840081
NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn) rs141040985
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) rs750839038
NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) rs370455223
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
NM_001365536.1(SCN9A):c.3925-13T>C rs886055051
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr) rs202235611
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294
NM_001365536.1(SCN9A):c.4399-10_4399-7del rs77944059
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) rs886055050
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=) rs201875421
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968
NM_001365536.1(SCN9A):c.965+13T>C rs772337722

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