ClinVar Miner

List of variants studied for Lynch syndrome by OMIM

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP
MLH1, 1-BP DEL, 1784T
MLH1, 11.6-KB DEL
MLH1, 2-BP DEL, 593AG
MLH1, 3-BP DEL, 213AGA
MLH1, 3.5-KB DEL
MLH1, 370-BP DEL
MLH1, EPIGENETICALLY SILENCED
MLH1, EX16DEL
MLH1, EX18DEL
MLH1, HYPERMETHYLATION
MSH2, 32-KB DEL, EX1-6
MSH2, DEL 50 CODONS
MSH6, 1-BP DEL, 594T
MSH6, 1-BP DEL, LEU222TER
MSH6, 13-KB DEL
MSH6, TRP1024TER
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1573_3439-429dupinsTAT
NM_000179.2(MSH6):c.1602del (p.Tyr535fs) rs63751234
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.3051_3052TC[1] (p.Leu1018fs) rs63751407
NM_000179.2(MSH6):c.3311_3312del (p.Phe1104fs) rs267608092
NM_000179.2(MSH6):c.651dup (p.Lys218Ter) rs63750955
NM_000249.3(MLH1):c.-42C>T rs41285097
NM_000249.3(MLH1):c.-93G>A rs1800734
NM_000249.3(MLH1):c.104_105delinsAC (p.Met35Asn) rs121912965
NM_000249.3(MLH1):c.131C>T (p.Ser44Phe) rs63751109
NM_000249.3(MLH1):c.1667+1_1667+8delinsATTT rs863223312
NM_000249.3(MLH1):c.1733A>G (p.Glu578Gly) rs63751612
NM_000249.3(MLH1):c.1846_1848AAG[2] (p.Lys618del) rs63751247
NM_000249.3(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.3(MLH1):c.1865T>A (p.Leu622His) rs63750693
NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.3(MLH1):c.199G>T (p.Gly67Trp) rs63750206
NM_000249.3(MLH1):c.200G>A (p.Gly67Glu) rs63749939
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.306+5G>A rs267607735
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.3(MLH1):c.454-1G>A rs193922370
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.3(MLH1):c.755C>A (p.Ser252Ter) rs63750198
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.3(MLH1):c.986A>C (p.His329Pro) rs63750710
NM_000251.1(MSH2):c.-823_1076+5984del
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1457_1460delATGA rs1114167806
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.2(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.2(MSH2):c.1865C>T (p.Pro622Leu) rs28929483
NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.2(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.2(MSH2):c.269_290dup (p.Tyr98fs) rs1553350126
NM_000251.2(MSH2):c.942+3A>T rs193922376
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1144+2T>A rs267608158
NM_000535.7(PMS2):c.1237_1239del (p.Lys413del) rs267608159
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.846del (p.Ser283fs) rs1057515571
NM_001040108.1(MLH3):c.1496A>G (p.Asn499Ser) rs28937871
NM_001040108.1(MLH3):c.1870G>C (p.Glu624Gln) rs28756986
NM_001040108.1(MLH3):c.2221G>T (p.Val741Phe) rs28756990
NM_001040108.1(MLH3):c.3826T>C (p.Trp1276Arg) rs121908439
NM_001040108.1(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071
NM_001040108.1(MLH3):c.70C>G (p.Gln24Glu) rs28937870
NM_001040108.1(MLH3):c.885del (p.His296fs) rs1431264077
NM_002354.2(EPCAM):c.859-1462_*1999del
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) rs104893815
NM_003242.6(TGFBR2):c.1597_1598TG[4] (p.Ala535fs) rs587776769
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NR_030286.1(MIR559):n.278_23134del
nsv513794

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