ClinVar Miner

List of variants in gene KIT reported by Genetic Services Laboratory, University of Chicago

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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.1383A>G (p.Thr461=) rs151016327 0.00324
NM_000222.3(KIT):c.2361T>C (p.Asn787=) rs140912933 0.00207
NM_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_000222.3(KIT):c.504G>A (p.Ala168=) rs140469176 0.00029
NM_000222.3(KIT):c.1594G>A (p.Val532Ile) rs55792975 0.00028
NM_000222.3(KIT):c.251C>T (p.Thr84Met) rs201872586 0.00019
NM_000222.3(KIT):c.2484C>T (p.Asn828=) rs141347955 0.00015
NM_000222.3(KIT):c.2259T>C (p.Thr753=) rs764287169 0.00009
NM_000222.3(KIT):c.2043T>G (p.Phe681Leu) rs878853763 0.00003
NM_000222.3(KIT):c.1204G>A (p.Ala402Thr) rs2109714391

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