ClinVar Miner

List of variants studied for Lynch syndrome 2 by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000249.4(MLH1):c.453+79A>G rs4234259 0.41512
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_000249.4(MLH1):c.1410-54C>T rs7633154 0.04850
NM_000249.4(MLH1):c.454-51T>C rs4647255 0.03218
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_000249.4(MLH1):c.381-41A>G rs4647245 0.01794
NM_000249.4(MLH1):c.474C>T (p.Asn158=) rs4647256 0.01161
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_000249.4(MLH1):c.1038+51C>T rs55986674 0.00582
NM_000249.4(MLH1):c.589-15C>T rs55658850 0.00582
NM_000249.4(MLH1):c.545+20A>T rs121909453 0.00424
NM_000249.4(MLH1):c.453+25A>G rs4647246 0.00414
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000249.4(MLH1):c.589-25G>A rs188146618 0.00101
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_000249.4(MLH1):c.1410-10T>G rs372053184 0.00044
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00009
NM_000249.4(MLH1):c.954C>T (p.His318=) rs146777069 0.00006
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000249.4(MLH1):c.1036C>T (p.Gln346Ter)
NM_000249.4(MLH1):c.1489del (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1896+1G>C rs267607867
NM_000249.4(MLH1):c.2087C>A (p.Thr696Asn) rs868502951
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781

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