ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as likely benign for Inherited Erythromelalgia

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.*3038C>T rs115766730 0.01421
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.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_001365536.1(SCN9A):c.*2662G>A rs149873320 0.00457
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) rs202055175 0.00341
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.*124A>G rs201137748 0.00283
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001365536.1(SCN9A):c.*2312A>T rs185580193 0.00248
NM_001365536.1(SCN9A):c.*2228G>T rs200790957 0.00177
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_001365536.1(SCN9A):c.*2344C>T rs200962814 0.00173
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354 0.00056
NM_001365536.1(SCN9A):c.*3317A>G rs191667986 0.00039
NM_001365536.1(SCN9A):c.*18A>G rs150401869 0.00026
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439 0.00019
NM_001365536.1(SCN9A):c.2875-5del rs774840081 0.00011
NM_001365536.1(SCN9A):c.965+13T>C rs772337722 0.00010
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671 0.00006
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761 0.00005
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His) rs201318927 0.00004
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240 0.00003
NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn) rs141040985 0.00001
NM_001365536.1(SCN9A):c.*1014G>A rs200393413
NM_001365536.1(SCN9A):c.*1434dup rs199505193
NM_001365536.1(SCN9A):c.*1605_*1606del rs200091138
NM_001365536.1(SCN9A):c.*1960_*1962dup rs202073550
NM_001365536.1(SCN9A):c.*3102C>T rs182687583
NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn) rs188798505
NM_001365536.1(SCN9A):c.1603-14dup rs200430382
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1975-3del rs35888674

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