List of variants in gene KCNT1 reported as pathogenic by GeneDx

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: 18

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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.1066C>T (p.Arg356Trp)	rs752514808
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)	rs397515407
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1420C>A (p.Arg474Ser)	rs866242631
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys)	rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1426T>C (p.Trp476Arg)	rs886039397
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val)	rs886041691
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu)	rs1057522978
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2688G>C (p.Met896Ile)	rs797044544
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr)	rs397515403
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln)	rs1554771469
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr)	rs1564354299
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)	rs587777264

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