List of variants in gene KCNT1 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: 29

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HGVS	dbSNP	gnomAD frequency
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln)	rs758152252	0.00002
NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp)	rs775807509	0.00001
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp)	rs375711140	0.00001
NM_020822.3(KCNT1):c.1016T>G (p.Leu339Arg)	rs1831789627
NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu)	rs767434859
NM_020822.3(KCNT1):c.108del (p.Arg37fs)
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)	rs1588344733
NM_020822.3(KCNT1):c.1309C>A (p.Leu437Ile)	rs1057518066
NM_020822.3(KCNT1):c.1406A>C (p.His469Pro)	rs1554774322
NM_020822.3(KCNT1):c.1406A>T (p.His469Leu)	rs1554774322
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1424_1485dup (p.Asn496delinsProGlyProTer)	rs2131497737
NM_020822.3(KCNT1):c.1505T>C (p.Phe502Ser)
NM_020822.3(KCNT1):c.1885A>C (p.Lys629Gln)	rs1057522978
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu)	rs1057522978
NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val)
NM_020822.3(KCNT1):c.2390G>T (p.Gly797Val)
NM_020822.3(KCNT1):c.2459C>T (p.Pro820Leu)
NM_020822.3(KCNT1):c.2678A>T (p.Glu893Val)
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2800G>T (p.Ala934Ser)	rs397515403
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.3001A>T (p.Thr1001Ser)	rs143780942
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)	rs1193627908
NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr)	rs1831666357
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr)	rs1564354299
NM_020822.3(KCNT1):c.808C>A (p.Gln270Lys)
NM_020822.3(KCNT1):c.862G>T (p.Gly288Cys)	rs587777264

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