List of variants in gene SCN1A reported as likely pathogenic for developmental and epileptic encephalopathy 6B

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.2911G>A (p.Val971Ile)	rs748816300	0.00001
NM_001165963.4(SCN1A):c.1171-1G>A
NM_001165963.4(SCN1A):c.1175T>C (p.Leu392Ser)	rs2105862926
NM_001165963.4(SCN1A):c.1259C>A (p.Ala420Asp)	rs794726826
NM_001165963.4(SCN1A):c.1303del (p.Glu435fs)	rs2105861548
NM_001165963.4(SCN1A):c.2360T>A (p.Met787Lys)
NM_001165963.4(SCN1A):c.2589+2dup
NM_001165963.4(SCN1A):c.2636T>G (p.Leu879Arg)	rs1559200901
NM_001165963.4(SCN1A):c.2782C>T (p.Gln928Ter)	rs796052985
NM_001165963.4(SCN1A):c.2800A>C (p.Met934Leu)
NM_001165963.4(SCN1A):c.2855G>T (p.Trp952Leu)
NM_001165963.4(SCN1A):c.566del (p.Pro189fs)	rs1553551385
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr)	rs886039464
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser)	rs2105889878

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