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: rs41285097
rs41285097
MLH1 ; EPM2AIP1
2 0.925 0.160 3 36993506 5 prime UTR variant C/G;T snv 4.4E-05 0.700 1.000 2 2003 2005
dbSNP: rs111052004
rs111052004
MLH1 ; EPM2AIP1
2 0.925 0.160 3 36993549 start lost T/A;C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs72481822
rs72481822
MLH1 ; EPM2AIP1
4 0.925 0.160 3 36993550 start lost G/A;T snv 0.700 0
dbSNP: rs587779029
rs587779029
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993552 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs63750745
rs63750745
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993556 frameshift variant C/- del 0.700 0
dbSNP: rs63751891
rs63751891
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993559 frameshift variant AGGGGTTATTCGGC/- delins 0.700 0
dbSNP: rs63751892
rs63751892
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993563 frameshift variant GGTTATTCGGCGGCTGG/- delins 0.700 0
dbSNP: rs267607702
rs267607702
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993566 frameshift variant GTTATTCGGCGGCTGGA/- del 0.700 0
dbSNP: rs587778996
rs587778996
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993568 frameshift variant -/A delins 0.700 0
dbSNP: rs869312767
rs869312767
MLH1 ; EPM2AIP1
2 1.000 0.160 3 36993572 stop gained CG/TA mnv 0.700 0
dbSNP: rs63749816
rs63749816
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993578 frameshift variant C/- del 0.700 0
dbSNP: rs587779013
rs587779013
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993583 frameshift variant -/GA delins 0.700 0
dbSNP: rs587779008
rs587779008
MLH1 ; EPM2AIP1
3 1.000 0.160 3 36993584 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs63750057
rs63750057
MLH1 ; EPM2AIP1
2 1.000 0.160 3 36993584 frameshift variant -/A;CCCA delins 0.700 0
dbSNP: rs63750081
rs63750081
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993584 frameshift variant G/- del 0.700 0
dbSNP: rs63751131
rs63751131
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993590 frameshift variant -/T delins 0.700 0
dbSNP: rs63749804
rs63749804
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993598 frameshift variant C/- delins 0.700 0
dbSNP: rs63750648
rs63750648
MLH1 ; EPM2AIP1
3 0.882 0.160 3 36993602 missense variant A/T snv 0.700 1.000 4 2002 2010
dbSNP: rs63750581
rs63750581
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993607 frameshift variant G/- delins 0.700 0
dbSNP: rs63750706
rs63750706
MLH1 ; EPM2AIP1
3 0.882 0.160 3 36993609 missense variant C/A;T snv 0.700 0
dbSNP: rs63750822
rs63750822
MLH1 ; EPM2AIP1
3 1.000 0.160 3 36993610 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs63750823
rs63750823
MLH1 ; EPM2AIP1
3 1.000 0.160 3 36993614 stop gained G/A;T snv 0.700 0
dbSNP: rs63751396
rs63751396
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993617 frameshift variant G/- del 0.700 0
dbSNP: rs63749838
rs63749838
MLH1 ; EPM2AIP1
1 0.925 0.160 3 36993620 missense variant A/G;T snv 0.700 0
dbSNP: rs63749839
rs63749839
MLH1 ; EPM2AIP1
1 1.000 0.160 3 36993620 frameshift variant A/- del 0.700 0