List of variants in gene SCN3A reported as likely pathogenic for complex neurodevelopmental disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_006922.4(SCN3A):c.2564T>C (p.Leu855Pro)	rs2105776898
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	rs1057518801
NM_006922.4(SCN3A):c.2653C>T (p.Leu885Phe)	rs2105772689
NM_006922.4(SCN3A):c.2947TTG[1] (p.Leu984del)	rs1574159505
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu)	rs1057520753
NM_006922.4(SCN3A):c.4403T>G (p.Ile1468Arg)	rs755159935
NM_006922.4(SCN3A):c.4457C>T (p.Thr1486Ile)	rs2105636234
NM_006922.4(SCN3A):c.4518del (p.Lys1506fs)	rs2105635851
NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln)	rs1199412903
NM_006922.4(SCN3A):c.4937T>C (p.Phe1646Ser)	rs2105621618
NM_006922.4(SCN3A):c.5006A>G (p.Tyr1669Cys)	rs2105621335
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile)	rs2105619771
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala)	rs1553517274
NM_006922.4(SCN3A):c.5621T>G (p.Met1874Arg)	rs1685039783
NM_006922.4(SCN3A):c.626T>C (p.Leu209Pro)	rs1553537132
NM_006922.4(SCN3A):c.694+1G>T	rs2105892972
NM_006922.4(SCN3A):c.694+2T>G

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