ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as uncertain significance for Dravet syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_001365536.1(SCN9A):c.*165_*167dup rs886055049
NM_001365536.1(SCN9A):c.*2744del rs763459885
NM_001365536.1(SCN9A):c.*491del rs886055047
NM_001365536.1(SCN9A):c.1079A>G (p.Gln360Arg)
NM_001365536.1(SCN9A):c.1114C>T (p.Arg372Cys)
NM_001365536.1(SCN9A):c.1238T>C (p.Ile413Thr) rs200689195
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) rs200415928
NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser) rs192406412
NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu) rs201354321
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) rs200374987
NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser) rs200624920
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.3538A>G (p.Asn1180Asp) rs750269576
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met) rs1362318488
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) rs886055050
NM_001365536.1(SCN9A):c.4482A>G (p.Gln1494=) rs1558945594
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) rs200470541
NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys) rs371454107
NM_001365536.1(SCN9A):c.5948G>T (p.Ser1983Ile) rs770802841

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