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: rs1553666143
rs1553666143
MLH1
1 1.000 0.160 3 37050649 frameshift variant -/T delins 0.700 0
dbSNP: rs267607892
rs267607892
MLH1
2 1.000 0.160 3 37050647 frameshift variant -/TGTT delins 0.700 0
dbSNP: rs267607901
rs267607901
MLH1
5 0.882 0.160 3 37050633 frameshift variant AA/-;A;AAAA delins 0.700 1.000 1 2014 2014
dbSNP: rs267607894
rs267607894
MLH1
3 0.925 0.160 3 37050628 missense variant T/A;C snv 0.700 0
dbSNP: rs267607896
rs267607896
MLH1
1 1.000 0.160 3 37050606 frameshift variant C/- del 0.700 0
dbSNP: rs587778992
rs587778992
MLH1
2 0.882 0.200 3 37050606 stop gained C/T snv 0.700 0
dbSNP: rs267607897
rs267607897
MLH1
1 1.000 0.160 3 37050605 frameshift variant GCAGCTTGCTA/- del 0.700 0
dbSNP: rs587778989
rs587778989
MLH1
2 1.000 0.160 3 37050599 frameshift variant -/A delins 0.700 0
dbSNP: rs267607906
rs267607906
MLH1
3 1.000 0.160 3 37050576 stop gained A/C;G;T snv 0.700 0
dbSNP: rs267607903
rs267607903
MLH1
3 1.000 0.160 3 37050575 frameshift variant -/AACA delins 0.700 0
dbSNP: rs267607898
rs267607898
MLH1
3 1.000 0.160 3 37050559 frameshift variant CACA/-;CA delins 0.700 0
dbSNP: rs63750484
rs63750484
MLH1
1 1.000 0.160 3 37050545 stop gained T/A snv 0.700 0
dbSNP: rs587778984
rs587778984
MLH1
1 1.000 0.160 3 37050537 frameshift variant -/T delins 0.700 0
dbSNP: rs587778983
rs587778983
MLH1
1 1.000 0.160 3 37050535 missense variant A/C snv 0.700 0
dbSNP: rs63750971
rs63750971
MLH1
2 0.925 0.160 3 37050533 frameshift variant CA/-;CACA delins 0.700 0
dbSNP: rs587778982
rs587778982
MLH1
1 1.000 0.160 3 37050530 frameshift variant -/GAACACATTGTCTATAAAGCCTTGCGCTCACACATTCTGCCTCCTAA delins 0.700 0
dbSNP: rs587778981
rs587778981
MLH1
1 1.000 0.160 3 37050527 frameshift variant TG/- delins 0.700 0
dbSNP: rs63750978
rs63750978
MLH1
2 1.000 0.160 3 37050524 stop gained G/A snv 0.700 1.000 3 1996 2012
dbSNP: rs63751022
rs63751022
MLH1
3 0.925 0.160 3 37050523 stop gained G/A snv 0.700 1.000 4 2000 2013
dbSNP: rs63750499
rs63750499
MLH1
1 1.000 0.160 3 37050518 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs63750561
rs63750561
MLH1
3 1.000 0.160 3 37050517 stop gained G/A;C;T snv 2.0E-05 0.700 0
dbSNP: rs587778980
rs587778980
MLH1
1 1.000 0.160 3 37050492 frameshift variant TGCCTGG/- delins 0.700 0
dbSNP: rs587778979
rs587778979
MLH1
1 1.000 0.160 3 37050487 frameshift variant GTGAAGTGCC/- del 0.700 0
dbSNP: rs587778978
rs587778978
MLH1
1 1.000 0.160 3 37050485 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs267607889
rs267607889
MLH1
1 1.000 0.160 3 37050484 splice acceptor variant A/G;T snv 0.700 0