ClinVar Miner

List of variants reported as likely benign for Paroxysmal extreme pain disorder by Illumina Laboratory Services, Illumina

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463 0.00460
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) rs202055175 0.00341
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572 0.00059
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
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.29A>G (p.Gln10Arg) rs267607030 0.00006
NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr) rs755653914 0.00003
NM_001365536.1(SCN9A):c.5586G>A (p.Gln1862=) rs199572382 0.00002
NM_001365536.1(SCN9A):c.-31G>A rs200780217 0.00001
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.1603-14dup rs200430382
NM_001365536.1(SCN9A):c.1975-3del rs35888674

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