ClinVar Miner

List of variants in gene MLH1 reported as uncertain significance by PreventionGenetics, part of Exact Sciences

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207 0.00011
NM_000249.3(MLH1):c.-42C>T rs41285097 0.00009
NM_000249.4(MLH1):c.242C>T (p.Thr81Ile) rs63751069 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000249.3(MLH1):c.-33T>G rs201247839 0.00003
NM_000249.4(MLH1):c.991G>A (p.Glu331Lys) rs550914672 0.00003
NM_000249.4(MLH1):c.1256T>C (p.Ile419Thr) rs377484262 0.00002
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp) rs63751703 0.00002
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser) rs56250509 0.00002
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr) rs587782621 0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986 0.00001
NM_000249.4(MLH1):c.2167G>A (p.Ala723Thr) rs1392532273 0.00001
NM_000249.4(MLH1):c.2228T>G (p.Leu743Arg) rs864622258 0.00001
NM_000249.4(MLH1):c.452C>T (p.Thr151Met) rs776969475 0.00001
NM_000249.4(MLH1):c.589-17T>A rs754180618 0.00001
NM_000249.4(MLH1):c.976G>A (p.Val326Met) rs730881739 0.00001
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys) rs143009528
NM_000249.4(MLH1):c.1136A>T (p.Tyr379Phe) rs143009528
NM_000249.4(MLH1):c.125C>T (p.Ala42Val) rs587778901
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp) rs147939838
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del) rs587778920
NM_000249.4(MLH1):c.1559T>G (p.Val520Gly) rs1200485334
NM_000249.4(MLH1):c.1925T>C (p.Leu642Pro)
NM_000249.4(MLH1):c.196A>G (p.Thr66Ala) rs876660926
NM_000249.4(MLH1):c.2020G>A (p.Glu674Lys) rs755577490
NM_000249.4(MLH1):c.2210A>T (p.Asp737Val) rs267607885
NM_000249.4(MLH1):c.292G>C (p.Gly98Arg) rs267607725
NM_000249.4(MLH1):c.31C>G (p.Leu11Val) rs864622596
NM_000249.4(MLH1):c.454-3C>G rs2082047640
NM_000249.4(MLH1):c.463C>T (p.Leu155Phe) rs749370894
NM_000249.4(MLH1):c.706A>G (p.Lys236Glu) rs1553645179
NM_000249.4(MLH1):c.748A>T (p.Asn250Tyr) rs786203107
NM_000249.4(MLH1):c.74T>C (p.Ile25Thr) rs63750514
NM_000249.4(MLH1):c.953A>G (p.His318Arg) rs1559543995

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