ClinVar Miner

List of variants in gene MLH1 reported as likely pathogenic for Lynch syndrome 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter) rs147542208 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000249.3:c.(306+1_307-1)_(790+1_791-1)del
NM_000249.4(MLH1):c.1139_1149del (p.Ala380fs) rs2083404326
NM_000249.4(MLH1):c.114C>A (p.Asn38Lys) rs267607706
NM_000249.4(MLH1):c.1168del (p.Glu390fs)
NM_000249.4(MLH1):c.117-1G>T rs587779950
NM_000249.4(MLH1):c.1230_1232delinsTG (p.Ile411fs) rs1575536219
NM_000249.4(MLH1):c.1612del (p.Trp538fs) rs2084643841
NM_000249.4(MLH1):c.1616_1619del (p.Ala539fs) rs2084645057
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1866del (p.Ala623fs) rs587778950
NM_000249.4(MLH1):c.1926dup (p.Ile643fs) rs2085415475
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg) rs63751202
NM_000249.4(MLH1):c.1990-3_2001del rs2085459433
NM_000249.4(MLH1):c.2041del (p.Ala681fs) rs2085472296
NM_000249.4(MLH1):c.2128_2131dup (p.Ser711Ter)
NM_000249.4(MLH1):c.2236_2247del (p.Leu746_Leu749del) rs1575641243
NM_000249.4(MLH1):c.238T>G (p.Phe80Val) rs63749990
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.345_349del (p.Thr116fs) rs2081714489
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.4(MLH1):c.879C>G (p.Tyr293Ter)
NM_000249.4(MLH1):c.885-2A>C rs267607805
NM_000249.4(MLH1):c.923A>C (p.His308Pro) rs1559543768
NM_000249.4(MLH1):c.92C>A (p.Ala31Asp)
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000249.4(MLH1):c.978GCA[2] (p.Gln328del) rs2082985381
NM_000249.4(MLH1):c.988_990del (p.Ile330del) rs63751197

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