ClinVar Miner

List of variants reported as uncertain significance for Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu) rs63750843 0.00011
NM_000251.3(MSH2):c.-181G>A rs786201698 0.00010
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu) rs63750611 0.00004
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys) rs63750029 0.00004
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp) rs267607938 0.00003
NM_000251.3(MSH2):c.1817T>A (p.Val606Asp) rs376044376 0.00002
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro) rs55653533 0.00001
NM_000251.3(MSH2):c.1571G>A (p.Arg524His) rs63751207 0.00001
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln) rs199744440 0.00001
NM_000251.3(MSH2):c.177G>C (p.Lys59Asn) rs1449905909 0.00001
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val) rs755920849 0.00001
NM_000251.3(MSH2):c.2086C>T (p.Pro696Ser) rs546201898 0.00001
NM_000251.3(MSH2):c.220A>C (p.Asn74His) rs150548839 0.00001
NM_000251.3(MSH2):c.544G>T (p.Asp182Tyr) rs730881770 0.00001
NM_000251.3(MSH2):c.554C>T (p.Ser185Phe) rs878853819 0.00001
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly) rs141021599 0.00001
NM_000251.3(MSH2):c.5C>T (p.Ala2Val) rs587778521 0.00001
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg) rs63750574 0.00001
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser) rs587781294 0.00001
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser) rs779673318 0.00001
NM_000251.3(MSH2):c.-11G>C rs1057524512
NM_000251.3(MSH2):c.-81dup rs587779187
NM_000251.3(MSH2):c.110T>G (p.Phe37Cys)
NM_000251.3(MSH2):c.1315C>G (p.Pro439Ala) rs786203116
NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys) rs267607954
NM_000251.3(MSH2):c.1454T>C (p.Met485Thr) rs1553365763
NM_000251.3(MSH2):c.160G>A (p.Ala54Thr) rs749212640
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys) rs587779102
NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys) rs63751054
NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys) rs1361816581
NM_000251.3(MSH2):c.1910C>G (p.Ser637Cys) rs1064795992
NM_000251.3(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.200T>G (p.Met67Arg) rs876660001
NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr) rs914610419
NM_000251.3(MSH2):c.2072T>C (p.Ile691Thr) rs754824872
NM_000251.3(MSH2):c.2213C>G (p.Ser738Cys)
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala) rs757268664
NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser) rs757268664
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr) rs878853811
NM_000251.3(MSH2):c.2645A>C (p.Lys882Thr) rs1284087975
NM_000251.3(MSH2):c.291G>T (p.Gln97His) rs1064794792
NM_000251.3(MSH2):c.572T>C (p.Leu191Pro)
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter) rs587779976
NM_000251.3(MSH2):c.726C>G (p.Asn242Lys) rs748427458
NM_000251.3(MSH2):c.73G>T (p.Gly25Cys) rs746259256
NM_000251.3(MSH2):c.746A>C (p.Lys249Thr) rs61756464
NM_000251.3(MSH2):c.900G>A (p.Met300Ile) rs587782530
NM_000251.3(MSH2):c.943G>T (p.Gly315Cys) rs2104242161

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