List of variants in gene KIT reported as pathogenic for neurocristopathy

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: 40

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HGVS	dbSNP	gnomAD frequency
NM_000222.3(KIT):c.1964A>G (p.Asn655Ser)	rs1057519707	0.00001
NC_000004.12:g.(?_54229292)_(54740716_)del
NM_000222.3(KIT):c.1510T>C (p.Phe504Leu)	rs1057519702
NM_000222.3(KIT):c.1650A>C (p.Lys550Asn)	rs1057519703
NM_000222.3(KIT):c.1650A>T (p.Lys550Asn)	rs1057519703
NM_000222.3(KIT):c.1657T>A (p.Tyr553Asn)	rs1057519704
NM_000222.3(KIT):c.1669T>A (p.Trp557Arg)	rs121913235
NM_000222.3(KIT):c.1669T>C (p.Trp557Arg)	rs121913235
NM_000222.3(KIT):c.1674G>C (p.Lys558Asn)	rs200375589
NM_000222.3(KIT):c.1674G>T (p.Lys558Asn)	rs200375589
NM_000222.3(KIT):c.1676T>A (p.Val559Asp)	rs121913517
NM_000222.3(KIT):c.1676T>G (p.Val559Gly)	rs121913517
NM_000222.3(KIT):c.1679T>A (p.Val560Asp)	rs121913521
NM_000222.3(KIT):c.1679T>C (p.Val560Ala)	rs121913521
NM_000222.3(KIT):c.1679T>G (p.Val560Gly)	rs121913521
NM_000222.3(KIT):c.1681dup (p.Glu561fs)	rs794726673
NM_000222.3(KIT):c.1696A>G (p.Asn566Asp)	rs1057519705
NM_000222.3(KIT):c.1706T>G (p.Val569Gly)	rs1057519706
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro)	rs121913513
NM_000222.3(KIT):c.1747G>A (p.Glu583Lys)	rs121913680
NM_000222.3(KIT):c.1751T>G (p.Phe584Cys)	rs28933371
NM_000222.3(KIT):c.1752T>G (p.Phe584Leu)	rs794726671
NM_000222.3(KIT):c.1879+1G>A	rs794726675
NM_000222.3(KIT):c.1925_1926del (p.Lys642fs)	rs794726672
NM_000222.3(KIT):c.1961T>C (p.Val654Ala)	rs121913523
NM_000222.3(KIT):c.1965T>A (p.Asn655Lys)	rs1057519708
NM_000222.3(KIT):c.1965T>G (p.Asn655Lys)	rs1057519708
NM_000222.3(KIT):c.1990G>A (p.Gly664Arg)	rs121913679
NM_000222.3(KIT):c.237del (p.Asn80fs)
NM_000222.3(KIT):c.2415_2422del (p.Thr806fs)	rs2109801456
NM_000222.3(KIT):c.2446G>C (p.Asp816His)	rs121913506
NM_000222.3(KIT):c.2458G>C (p.Asp820His)	rs1057519710
NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr)	rs1057519710
NM_000222.3(KIT):c.2465A>T (p.Asn822Ile)	rs993022333
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys)	rs121913514
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys)	rs121913514
NM_000222.3(KIT):c.2485G>C (p.Ala829Pro)	rs1057519713
NM_000222.3(KIT):c.2539A>C (p.Thr847Pro)	rs121913687
NM_000222.3(KIT):c.253del (p.Glu85fs)	rs794726674
NM_000222.3(KIT):c.2700T>A (p.Tyr900Ter)

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