ClinVar Miner

List of variants in gene SCN1A reported as uncertain significance for not specified

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2125C>G (p.Gln709Glu) rs370037455 0.00005
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) rs769582667 0.00003
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=) rs780391343 0.00003
NM_001165963.4(SCN1A):c.1171-19C>A rs929127955 0.00001
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr) rs758871507 0.00001
NM_001165963.4(SCN1A):c.1082G>A (p.Gly361Asp) rs1553547528
NM_001165963.4(SCN1A):c.1201A>G (p.Ile401Val) rs1697908394
NM_001165963.4(SCN1A):c.1329A>G (p.Glu443=) rs1553546728
NM_001165963.4(SCN1A):c.1429G>C (p.Gly477Arg) rs1553545777
NM_001165963.4(SCN1A):c.1572A>T (p.Glu524Asp)
NM_001165963.4(SCN1A):c.1787_1789del (p.Ser596del) rs796053061
NM_001165963.4(SCN1A):c.1850_1851delinsAT (p.Arg617Asn) rs796053063
NM_001165963.4(SCN1A):c.2392A>G (p.Asn798Asp) rs2105827436
NM_001165963.4(SCN1A):c.2404G>A (p.Val802Ile) rs1057518467
NM_001165963.4(SCN1A):c.2675A>G (p.Asn892Ser) rs1553541455
NM_001165963.4(SCN1A):c.2946+4T>C rs1390205269
NM_001165963.4(SCN1A):c.398T>A (p.Leu133Gln) rs1131691440
NM_001165963.4(SCN1A):c.602+3_602+6del rs1698937795
NM_001165963.4(SCN1A):c.964+12_964+15del

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