ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as pathogenic for Paroxysmal extreme pain disorder

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Total variants: 10
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HGVS dbSNP
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys) rs121908910
NM_001365536.1(SCN9A):c.3925G>T (p.Val1309Phe) rs121908912
NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp) rs121908911
NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe) rs121908913
NM_001365536.1(SCN9A):c.4415T>A (p.Ile1472Asn) rs121908914
NM_001365536.1(SCN9A):c.4415T>C (p.Ile1472Thr) rs121908914
NM_001365536.1(SCN9A):c.4417T>G (p.Phe1473Val) rs1553474394
NM_001365536.1(SCN9A):c.4424C>T (p.Thr1475Ile) rs121908915
NM_001365536.1(SCN9A):c.4868T>C (p.Leu1623Pro) rs1131691776
NM_001365536.1(SCN9A):c.4928C>A (p.Ala1643Glu) rs879253994

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