List of variants in gene MLH1 reported as likely pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 97

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HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)	rs63750952	0.00003
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)	rs63749909	0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)	rs63751596	0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	rs63751275	0.00001
NM_000249.4(MLH1):c.207+1G>A	rs267607718	0.00001
NM_000249.4(MLH1):c.306G>A (p.Glu102=)	rs63751665	0.00001
NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter)	rs1553648220
NM_000249.4(MLH1):c.1032del (p.Phe344fs)	rs1553648225
NM_000249.4(MLH1):c.1038+1G>A	rs267607816
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)	rs63751715
NM_000249.4(MLH1):c.1039-2A>G	rs267607815
NM_000249.4(MLH1):c.1039-3C>G	rs730881737
NM_000249.4(MLH1):c.1047_1049delinsT (p.Pro350fs)	rs1559551570
NM_000249.4(MLH1):c.112A>T (p.Asn38Tyr)	rs63750580
NM_000249.4(MLH1):c.1258del (p.Ser420fs)	rs863225373
NM_000249.4(MLH1):c.1348dup (p.Asp450fs)	rs587778906
NM_000249.4(MLH1):c.1409+1G>A	rs267607825
NM_000249.4(MLH1):c.1409+1G>T	rs267607825
NM_000249.4(MLH1):c.1410-2A>G	rs746536721
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs)	rs1553653084
NM_000249.4(MLH1):c.1520_1521insTA (p.Leu507fs)	rs1553653135
NM_000249.4(MLH1):c.1558+1G>A	rs267607832
NM_000249.4(MLH1):c.1559-1G>A	rs267607837
NM_000249.4(MLH1):c.1559-1G>C	rs267607837
NM_000249.4(MLH1):c.1569del (p.Met524fs)	rs1559574795
NM_000249.4(MLH1):c.156del (p.Glu53fs)	rs63750028
NM_000249.4(MLH1):c.1621G>C (p.Ala541Pro)	rs1064793578
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)	rs63751596
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro)	rs63750059
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs)	rs863225376
NM_000249.4(MLH1):c.1719del (p.Leu574fs)	rs863225377
NM_000249.4(MLH1):c.1731+1G>T	rs267607853
NM_000249.4(MLH1):c.1731+5G>A	rs267607850
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)	rs63751657
NM_000249.4(MLH1):c.1732-2A>C	rs267607852
NM_000249.4(MLH1):c.1732-2A>G	rs267607852
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe)	rs63751713
NM_000249.4(MLH1):c.1745del (p.Leu582fs)	rs587778942
NM_000249.4(MLH1):c.1765_1769del (p.Ala589fs)
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del)	rs63750486
NM_000249.4(MLH1):c.1834_1847delinsT (p.Ile611_Val612insTer)	rs863225379
NM_000249.4(MLH1):c.1860dup (p.Met621fs)	rs863225380
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn)	rs63750850
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly)	rs1064795693
NM_000249.4(MLH1):c.188A>T (p.Asp63Val)	rs1064795693
NM_000249.4(MLH1):c.1896+1G>T	rs267607867
NM_000249.4(MLH1):c.1896+2T>C	rs267607869
NM_000249.4(MLH1):c.1907_1920del (p.Leu636fs)	rs1553663750
NM_000249.4(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer)	rs587778958
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)	rs63749792
NM_000249.4(MLH1):c.1938_1945dup (p.Pro649fs)	rs1064794331
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
NM_000249.4(MLH1):c.1989+2T>C	rs1553664119
NM_000249.4(MLH1):c.1989G>A (p.Glu663=)	rs63751662
NM_000249.4(MLH1):c.1990-2A>G	rs267607883
NM_000249.4(MLH1):c.2032A>T (p.Lys678Ter)	rs1553664436
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)	rs587778971
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	rs63750217
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val)	rs63750864
NM_000249.4(MLH1):c.2059del (p.Arg687fs)	rs863225381
NM_000249.4(MLH1):c.207+2T>C	rs267607722
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs)	rs876659681
NM_000249.4(MLH1):c.208-3C>G	rs267607720
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)	rs63750114
NM_000249.4(MLH1):c.2103+1G>T	rs267607888
NM_000249.4(MLH1):c.2103+3A>G	rs587778976
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter)	rs267607893
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)	rs267607901
NM_000249.4(MLH1):c.230G>C (p.Cys77Ser)	rs63750437
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)	rs63750641
NM_000249.4(MLH1):c.283del (p.Ser95fs)	rs1064795441
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser)	rs267607726
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.307-2A>G	rs267607732
NM_000249.4(MLH1):c.326A>C (p.His109Pro)	rs587779004
NM_000249.4(MLH1):c.34dup (p.Asp12fs)	rs1553637196
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)	rs63750781
NM_000249.4(MLH1):c.380G>T (p.Arg127Ile)	rs63751595
NM_000249.4(MLH1):c.381-1G>A	rs267607744
NM_000249.4(MLH1):c.381-1G>C	rs267607744
NM_000249.4(MLH1):c.404dup (p.Lys136fs)	rs1553642079
NM_000249.4(MLH1):c.453+1G>T	rs267607750
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)	rs63750648
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)	rs863225383
NM_000249.4(MLH1):c.62C>T (p.Ala21Val)	rs63750706
NM_000249.4(MLH1):c.673dup (p.Ser225fs)	rs1575469505
NM_000249.4(MLH1):c.783del (p.Phe261fs)	rs2125823340
NM_000249.4(MLH1):c.790+1G>A	rs267607789
NM_000249.4(MLH1):c.791-5T>G	rs267607788
NM_000249.4(MLH1):c.793del (p.Arg265fs)	rs863225384
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro)	rs63751448
NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)	rs63750216
NM_000249.4(MLH1):c.882C>T (p.Leu294=)	rs63751707
NM_000249.4(MLH1):c.923A>T (p.His308Leu)
NM_000249.4(MLH1):c.927dup (p.Thr310fs)	rs1553647995
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs)	rs1553648047

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