ClinVar Miner

List of variants in gene KIT reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.2586G>C (p.Leu862=) rs3733542 0.16755
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_000222.3(KIT):c.2142-36A>G rs17084713 0.02490
NM_000222.3(KIT):c.1638A>G (p.Lys546=) rs55986963 0.02258
NM_000222.3(KIT):c.2394C>T (p.Ile798=) rs55789615 0.02125
NM_000222.3(KIT):c.2847C>T (p.Pro949=) rs56288823 0.01843
NM_000222.3(KIT):c.67+4G>A rs72550820 0.00969
NM_000222.3(KIT):c.1119C>T (p.Tyr373=) rs72549293 0.00964
NM_000222.3(KIT):c.532G>A (p.Ala178Thr) rs115585711 0.00342
NM_000222.3(KIT):c.-14T>A rs140909964 0.00332
NM_000222.3(KIT):c.1199A>G (p.Asn400Ser) rs72549294 0.00215
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.503C>T (p.Ala168Val) rs149092990 0.00063
NM_000222.3(KIT):c.1195G>A (p.Val399Ile) rs143707288 0.00059
NM_000222.3(KIT):c.1587C>T (p.Phe529=) rs148248559 0.00049
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
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.925+9C>T rs201405378 0.00029
NM_000222.3(KIT):c.2349C>T (p.Leu783=) rs151046591 0.00022
NM_000222.3(KIT):c.591G>A (p.Ser197=) rs140839561 0.00022
NM_000222.3(KIT):c.1486G>A (p.Asp496Asn) rs143179681 0.00021
NM_000222.3(KIT):c.251C>T (p.Thr84Met) rs201872586 0.00019
NM_000222.3(KIT):c.1230T>C (p.Asn410=) rs140536677 0.00017
NM_000222.3(KIT):c.1674G>A (p.Lys558=) rs200375589 0.00016
NM_000222.3(KIT):c.1541-8C>T rs367739763 0.00014
NM_000222.3(KIT):c.2234-3C>T rs370131461 0.00014
NM_000222.3(KIT):c.2502G>A (p.Lys834=) rs146992614 0.00014
NM_000222.3(KIT):c.978C>T (p.Asn326=) rs148594615 0.00011
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_000222.3(KIT):c.2259T>C (p.Thr753=) rs764287169 0.00009
NM_000222.3(KIT):c.2290C>T (p.Leu764=) rs770413971 0.00009
NM_000222.3(KIT):c.2867G>A (p.Arg956Gln) rs139694927 0.00008
NM_000222.3(KIT):c.230A>G (p.Asn77Ser) rs371353189 0.00007
NM_000222.3(KIT):c.106C>T (p.Pro36Ser) rs781633384 0.00006
NM_000222.3(KIT):c.1351T>C (p.Ser451Pro) rs145183977 0.00006
NM_000222.3(KIT):c.2208C>T (p.Ala736=) rs375902940 0.00006
NM_000222.3(KIT):c.2683G>A (p.Ala895Thr) rs774405431 0.00006
NM_000222.3(KIT):c.522T>C (p.Ser174=) rs145993517 0.00006
NM_000222.3(KIT):c.1848G>A (p.Ala616=) rs148853099 0.00005
NM_000222.3(KIT):c.1290A>G (p.Ala430=) rs55966164 0.00004
NM_000222.3(KIT):c.1296A>G (p.Gly432=) rs781686359 0.00004
NM_000222.3(KIT):c.1991-7C>T rs370661908 0.00004
NM_000222.3(KIT):c.2293G>T (p.Asp765Tyr) rs760112920 0.00004
NM_000222.3(KIT):c.2541G>A (p.Thr847=) rs762912889 0.00004
NM_000222.3(KIT):c.2802+9A>G rs369450271 0.00004
NM_000222.3(KIT):c.839C>T (p.Ala280Val) rs386833402 0.00004
NM_000222.3(KIT):c.84T>C (p.Ser28=) rs758868843 0.00004
NM_000222.3(KIT):c.-5C>T rs202070769 0.00003
NM_000222.3(KIT):c.1404G>A (p.Pro468=) rs767079772 0.00003
NM_000222.3(KIT):c.390C>T (p.Asn130=) rs575926270 0.00003
NM_000222.3(KIT):c.463C>T (p.Pro155Ser) rs777031731 0.00003
NM_000222.3(KIT):c.735G>A (p.Thr245=) rs150150449 0.00003
NM_000222.3(KIT):c.2145C>T (p.Ser715=) rs192110951 0.00002
NM_000222.3(KIT):c.2554G>A (p.Val852Ile) rs555650901 0.00002
NM_000222.3(KIT):c.2836C>T (p.Arg946Ter) rs139000082 0.00002
NM_000222.3(KIT):c.829A>G (p.Ile277Val) rs757547974 0.00002
NM_000222.3(KIT):c.1541-5T>C rs1722278741 0.00001
NM_000222.3(KIT):c.1656G>A (p.Met552Ile) rs1482011071 0.00001
NM_000222.3(KIT):c.1781C>T (p.Thr594Ile) rs375351432 0.00001
NM_000222.3(KIT):c.1800C>T (p.Phe600=) rs138380197 0.00001
NM_000222.3(KIT):c.2062T>A (p.Ser688Thr) rs752130583 0.00001
NM_000222.3(KIT):c.2264C>T (p.Ala755Val) rs758252647 0.00001
NM_000222.3(KIT):c.2350G>A (p.Ala784Thr) rs1309976246 0.00001
NM_000222.3(KIT):c.2806T>C (p.Tyr936His) rs1304063923 0.00001
NM_000222.3(KIT):c.338-5T>G rs1381007585 0.00001
NM_000222.3(KIT):c.-9G>T
NM_000222.3(KIT):c.1155C>T (p.Thr385=) rs373472667
NM_000222.3(KIT):c.1272C>T (p.Gly424=) rs1553891012
NM_000222.3(KIT):c.1540+30G>A rs886038271
NM_000222.3(KIT):c.15C>T (p.Arg5=) rs1357038342
NM_000222.3(KIT):c.188T>C (p.Phe63Ser) rs1349391161
NM_000222.3(KIT):c.1895C>T (p.Thr632Ile) rs1553891944
NM_000222.3(KIT):c.19G>A (p.Ala7Thr) rs1285711357
NM_000222.3(KIT):c.252G>T (p.Thr84=) rs56411694
NM_000222.3(KIT):c.2541G>T (p.Thr847=) rs762912889
NM_000222.3(KIT):c.33C>G (p.Leu11=) rs894439242
NM_000222.3(KIT):c.484T>C (p.Phe162Leu) rs201222895
NM_000222.3(KIT):c.532G>T (p.Ala178Ser) rs115585711
NM_000222.3(KIT):c.662A>G (p.Tyr221Cys) rs763853854
NM_000222.3(KIT):c.881A>G (p.Asn294Ser) rs1019104358

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