ClinVar Miner

Variants in gene KIT with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 27
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.-14T>A rs140909964 0.00332
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00324
NM_000222.3(KIT):c.1199A>G (p.Asn400Ser) rs72549294 0.00215
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.200C>G (p.Thr67Ser) rs144933028 0.00045
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.1594G>A (p.Val532Ile) rs55792975 0.00028
NM_000222.3(KIT):c.2349C>T (p.Leu783=) rs151046591 0.00022
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.2484C>T (p.Asn828=) rs141347955 0.00015
NM_000222.3(KIT):c.2234-3C>T rs370131461 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.2867G>A (p.Arg956Gln) rs139694927 0.00008
NM_000222.3(KIT):c.297C>T (p.Asn99=) rs768599276 0.00007
NM_000222.3(KIT):c.910A>G (p.Thr304Ala) rs202052259 0.00006
NM_000222.3(KIT):c.2802+9A>G rs369450271 0.00004
NM_000222.3(KIT):c.829A>G (p.Ile277Val) rs757547974 0.00002
NM_000222.3(KIT):c.2118T>G (p.Leu706=) rs766840704 0.00001
NM_000222.3(KIT):c.2562C>G (p.Ser854=) rs750039813 0.00001
NM_000222.3(KIT):c.2670C>T (p.Leu890=) rs745967881 0.00001
NM_000222.3(KIT):c.1185C>A (p.Ser395=) rs755864184
NM_000222.3(KIT):c.1232-6C>G rs1553890995

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