ClinVar Miner

List of variants in gene KIT reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NC_000004.11:g.(?_55524176)_(55604729_?)del
NC_000004.11:g.(?_55569880)_(55570068_?)del
NM_000222.3(KIT):c.1000_1003dup (p.Val335fs) rs2109705287
NM_000222.3(KIT):c.108_109insT (p.Pro37fs) rs1553887262
NM_000222.3(KIT):c.1126G>T (p.Glu376Ter) rs1720997965
NM_000222.3(KIT):c.1168dup (p.Tyr390fs) rs1721001014
NM_000222.3(KIT):c.120_123dup (p.Gly42fs) rs1161473997
NM_000222.3(KIT):c.1253_1254insAA (p.Tyr418Ter)
NM_000222.3(KIT):c.1482C>A (p.Tyr494Ter) rs771092774
NM_000222.3(KIT):c.1494del (p.Lys499fs)
NM_000222.3(KIT):c.1526A>T (p.Lys509Ile) rs1577992594
NM_000222.3(KIT):c.1666C>T (p.Gln556Ter) rs1722301014
NM_000222.3(KIT):c.1670G>A (p.Trp557Ter) rs1057520032
NM_000222.3(KIT):c.1735_1737del (p.Asp579del) rs1060502543
NM_000222.3(KIT):c.1861G>A (p.Ala621Thr) rs1560418178
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.3(KIT):c.1965T>A (p.Asn655Lys) rs1057519708
NM_000222.3(KIT):c.1990+1del rs2109782285
NM_000222.3(KIT):c.2080C>T (p.Gln694Ter) rs1722443590
NM_000222.3(KIT):c.2139del (p.Cys714fs)
NM_000222.3(KIT):c.2152_2153del (p.Ser717_Thr718insTer) rs1560420761
NM_000222.3(KIT):c.2446_2447del (p.Asp816fs)
NM_000222.3(KIT):c.2454del (p.Asn819fs) rs1060502521
NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr) rs1057519710
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.32_33insG (p.Cys12fs)
NM_000222.3(KIT):c.364del (p.Arg122fs) rs2109671915
NM_000222.3(KIT):c.366_369del (p.Ser123fs) rs2109671956
NM_000222.3(KIT):c.389del (p.Asn130fs) rs1560395607
NM_000222.3(KIT):c.568C>T (p.Gln190Ter) rs1720236510
NM_000222.3(KIT):c.604del (p.Ile201_Leu202insTer)
NM_000222.3(KIT):c.673del (p.Glu225fs)
NM_000222.3(KIT):c.753_756del (p.Ser251fs) rs1553887960
NM_000222.3(KIT):c.756+1G>A rs1301704156
NM_000222.3(KIT):c.761_765del (p.Lys254fs)
NM_000222.3(KIT):c.828_832dup (p.Ser278fs)
NM_000222.3(KIT):c.86_87del (p.Val29fs)
NM_000222.3(KIT):c.959del (p.Asn320fs)

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