ClinVar Miner

List of variants reported as benign for Inherited Erythromelalgia

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.2105-14C>T rs6432893 0.56480
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_002977.3(SCN9A):c.-307G>T rs1881440 0.24356
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.*1118_*1119insCA rs140616949 0.11174
NM_001365536.1(SCN9A):c.*1796C>T rs16851751 0.10742
NM_001365536.1(SCN9A):c.*771_*772dup rs144515054 0.07233
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.*1605del rs148459420 0.06695
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06646
NM_001365536.1(SCN9A):c.*129C>T rs16851759 0.03731
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.*244_*247dup rs143461219
NM_001365536.1(SCN9A):c.*2616_*2626del rs145255931
NM_001365536.1(SCN9A):c.*416dup rs3834910
NM_001365536.1(SCN9A):c.*529_*530del rs140024416
NM_001365536.1(SCN9A):c.*798dup rs564394161
NM_001365536.1(SCN9A):c.1975-3dup rs35888674
NM_001365536.1(SCN9A):c.2874+13del rs200434162
NM_001365536.1(SCN9A):c.4399-10_4399-7del rs77944059

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