ClinVar Miner

List of variants in gene KIT reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.67+4G>A rs72550820 0.00969
NM_000222.3(KIT):c.*299G>C rs185479436 0.00330
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00324
NM_000222.3(KIT):c.2597-51T>C rs368272654 0.00263
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.*252G>T rs376694515 0.00148
NM_000222.3(KIT):c.*1834A>G rs186953545 0.00125
NM_000222.3(KIT):c.1588G>A (p.Val530Ile) rs72550822 0.00125
NM_000222.3(KIT):c.1195G>A (p.Val399Ile) rs143707288 0.00059
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_000222.3(KIT):c.504G>A (p.Ala168=) rs140469176 0.00029
NM_000222.3(KIT):c.2349C>T (p.Leu783=) rs151046591 0.00022
NM_000222.3(KIT):c.1674G>A (p.Lys558=) rs200375589 0.00016
NM_000222.3(KIT):c.2259T>C (p.Thr753=) rs764287169 0.00009
NM_000222.3(KIT):c.297C>T (p.Asn99=) rs768599276 0.00007
NM_000222.3(KIT):c.146G>A (p.Arg49His) rs376469897 0.00005
NM_000222.3(KIT):c.288G>A (p.Thr96=) rs150026676 0.00005
NM_000222.3(KIT):c.1290A>G (p.Ala430=) rs55966164 0.00004
NM_000222.3(KIT):c.1194C>T (p.Asp398=) rs376940990 0.00003
NM_000222.3(KIT):c.1207A>G (p.Ile403Val) rs878853759 0.00003
NM_000222.3(KIT):c.1831T>C (p.Leu611=) rs369412402 0.00003
NM_000222.3(KIT):c.2145C>T (p.Ser715=) rs192110951 0.00002
NM_000222.3(KIT):c.2577T>C (p.Leu859=) rs371058716 0.00002
NM_000222.3(KIT):c.2198C>T (p.Pro733Leu) rs992027457 0.00001
NM_000222.3(KIT):c.2625C>T (p.Val875=) rs748588125 0.00001
NM_000222.3(KIT):c.*1487_*1490del rs374796688
NM_000222.3(KIT):c.1008A>G (p.Glu336=) rs1720841718
NM_000222.3(KIT):c.1540G>T (p.Glu514Ter) rs1553891472
NM_000222.3(KIT):c.1866A>G (p.Val622=) rs1287132024
NM_000222.3(KIT):c.2087A>T (p.Asp696Val) rs1722444395
NM_000222.3(KIT):c.2152A>G (p.Thr718Ala) rs564307874
NM_000222.3(KIT):c.2418A>C (p.Thr806=)
NM_000222.3(KIT):c.447G>C (p.Lys149Asn)

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