List of variants in gene KCNT1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)	rs397515405	0.00001
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met)	rs370521183
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr)	rs397515403
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln)	rs1554771469
NM_020822.3(KCNT1):c.811G>T (p.Val271Phe)	rs1831669014
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)	rs587777264

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