ClinVar Miner

List of variants in gene KIT reported by Sema4, Sema4

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.2394C>T (p.Ile798=) rs55789615 0.02125
NM_000222.3(KIT):c.67+4G>A rs72550820 0.00969
NM_000222.3(KIT):c.532G>A (p.Ala178Thr) rs115585711 0.00342
NM_000222.3(KIT):c.1120G>A (p.Val374Ile) rs73137716 0.00218
NM_000222.3(KIT):c.1199A>G (p.Asn400Ser) rs72549294 0.00215
NM_000222.3(KIT):c.2361T>C (p.Asn787=) rs140912933 0.00207
NM_000222.3(KIT):c.2622G>A (p.Pro874=) rs55817813 0.00188
NM_000222.3(KIT):c.123A>T (p.Pro41=) rs72549300 0.00182
NM_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_000222.3(KIT):c.1588G>A (p.Val530Ile) rs72550822 0.00125
NM_000222.3(KIT):c.1587C>T (p.Phe529=) rs148248559 0.00049
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_000222.3(KIT):c.878A>G (p.Asn293Ser) rs137909416 0.00034
NM_000222.3(KIT):c.504G>A (p.Ala168=) rs140469176 0.00029
NM_000222.3(KIT):c.952A>G (p.Met318Val) rs143388949 0.00019
NM_000222.3(KIT):c.1674G>A (p.Lys558=) rs200375589 0.00016
NM_000222.3(KIT):c.1347-12T>C rs772339877 0.00013
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_000222.3(KIT):c.2234-8C>T rs199817515 0.00009
NM_000222.3(KIT):c.1351T>C (p.Ser451Pro) rs145183977 0.00006
NM_000222.3(KIT):c.2920G>A (p.Asp974Asn) rs72549297 0.00006
NM_000222.3(KIT):c.910A>G (p.Thr304Ala) rs202052259 0.00006
NM_000222.3(KIT):c.528A>G (p.Lys176=) rs532461931 0.00002
NM_000222.3(KIT):c.822G>A (p.Thr274=) rs747288547 0.00002
NM_000222.3(KIT):c.1656G>A (p.Met552Ile) rs1482011071 0.00001
NM_000222.3(KIT):c.1274T>C (p.Met425Thr) rs878853760
NM_000222.3(KIT):c.1700A>G (p.Asn567Ser) rs1016976398
NM_000222.3(KIT):c.1932G>A (p.Leu644=) rs1447436759

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