Gene: MLH1 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63751247
rs63751247
MLH1
5 0.882 0.200 3 37047632 inframe deletion AAG/- delins 0.700 1.000 16 1997 2018
dbSNP: rs63749795
rs63749795
MLH1
6 0.807 0.240 3 37028833 stop gained C/T snv 0.700 1.000 14 1992 2016
dbSNP: rs63751275
rs63751275
MLH1
6 0.851 0.240 3 37048973 missense variant C/A;G;T snv 1.2E-05; 2.0E-05 0.700 1.000 13 2002 2017
dbSNP: rs63751711
rs63751711
MLH1
4 0.925 0.160 3 37012099 missense variant G/A;T snv 0.700 1.000 13 1996 2016
dbSNP: rs63749909
rs63749909
MLH1
3 0.925 0.160 3 37028891 missense variant T/A;C snv 7.0E-06 0.700 1.000 12 1996 2015
dbSNP: rs63750792
rs63750792
MLH1 ; EPM2AIP1
3 0.925 0.160 3 36993630 missense variant C/T snv 0.700 1.000 12 1999 2013
dbSNP: rs63750453
rs63750453
MLH1
4 0.882 0.160 3 37001051 missense variant G/A snv 0.700 1.000 11 2001 2015
dbSNP: rs63750437
rs63750437
MLH1
3 0.925 0.160 3 37000977 missense variant G/A;C snv 0.700 1.000 10 1997 2014
dbSNP: rs63750641
rs63750641
MLH1
1 0.925 0.160 3 37000997 missense variant A/G snv 0.700 1.000 10 1999 2010
dbSNP: rs267607789
rs267607789
MLH1
3 1.000 0.160 3 37014545 splice donor variant G/A;C;T snv 0.700 1.000 9 1996 2016
dbSNP: rs63749906
rs63749906
MLH1 ; EPM2AIP1
1 0.925 0.160 3 36993651 missense variant T/G snv 0.700 1.000 8 1995 2007
dbSNP: rs63751221
rs63751221
MLH1
4 0.925 0.160 3 37001045 stop gained C/T snv 7.0E-06 0.700 1.000 8 2000 2009
dbSNP: rs267607845
rs267607845
MLH1
5 0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 0.700 1.000 7 2003 2016
dbSNP: rs63750539
rs63750539
MLH1
2 0.925 0.160 3 37004426 missense variant C/T snv 0.700 1.000 7 2000 2014
dbSNP: rs63751428
rs63751428
MLH1
3 0.882 0.160 3 36996686 stop gained C/A;T snv 0.700 1.000 7 1995 2010
dbSNP: rs63751598
rs63751598
MLH1
2 1.000 0.160 3 37017598 missense variant A/C;G snv 0.700 1.000 7 1997 2008
dbSNP: rs267607760
rs267607760
MLH1
3 0.925 0.160 3 37008908 splice region variant A/G snv 0.700 1.000 6 1997 2011
dbSNP: rs267607767
rs267607767
MLH1
4 0.925 0.160 3 37012009 splice acceptor variant A/C;G snv 0.700 1.000 6 1995 2016
dbSNP: rs587778998
rs587778998
MLH1
4 0.925 0.160 3 37000991 missense variant A/G snv 8.0E-06 0.700 1.000 6 2004 2015
dbSNP: rs267607768
rs267607768
MLH1
6 0.851 0.240 3 37011867 splice region variant G/A;C snv 0.700 1.000 5 2005 2013
dbSNP: rs63750005
rs63750005
MLH1
4 0.925 0.160 3 37000992 missense variant C/T snv 0.700 1.000 5 1999 2014
dbSNP: rs63750540
rs63750540
MLH1
6 0.851 0.240 3 37025979 stop gained A/T snv 0.700 1.000 5 1997 2009
dbSNP: rs63750603
rs63750603
MLH1
2 1.000 0.160 3 37049017 missense variant G/A;C snv 0.700 1.000 5 2005 2012
dbSNP: rs63750677
rs63750677
MLH1
3 0.925 0.160 3 37020435 frameshift variant C/-;CC delins 0.700 1.000 5 1997 2011
dbSNP: rs63751615
rs63751615
MLH1
5 0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 0.700 1.000 5 1996 2017