ClinVar Miner

List of variants in gene KIT reported by ITMI

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_000222.3(KIT):c.2361T>C (p.Asn787=) rs140912933 0.00207
NM_000222.3(KIT):c.1588G>A (p.Val530Ile) rs72550822 0.00125
NM_000222.3(KIT):c.503C>T (p.Ala168Val) rs149092990 0.00063
NM_000222.3(KIT):c.1195G>A (p.Val399Ile) rs143707288 0.00059
NM_000222.3(KIT):c.2554G>A (p.Val852Ile) rs555650901 0.00002
NM_000222.3(KIT):c.2866C>T (p.Arg956Trp) rs587778433 0.00002
NM_000222.3(KIT):c.1711A>G (p.Ile571Val) rs587778431 0.00001
NM_000222.3(KIT):c.101C>A (p.Pro34Gln) rs55755457
NM_000222.3(KIT):c.1241A>G (p.Glu414Gly) rs587778435
NM_000222.3(KIT):c.1263_1265dup (p.Val422dup) rs587778434
NM_000222.3(KIT):c.2358_2359delinsTT (p.Lys786_Asn787delinsAsnTyr) rs587778432

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