ClinVar Miner

List of variants studied for Gastrointestinal stromal tumor by KCCC/NGS Laboratory, Kuwait Cancer Control Center

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Total variants: 24
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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.1794A>T (p.Gly598=) rs72549292 0.00952
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.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.503C>T (p.Ala168Val) rs149092990 0.00063
NM_000222.3(KIT):c.878A>G (p.Asn293Ser) rs137909416 0.00034
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.1404G>A (p.Pro468=) rs767079772 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.2889C>T (p.Thr963=) rs200275681 0.00001
NM_000222.3(KIT):c.252G>T (p.Thr84=) rs56411694

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