ClinVar Miner

List of variants studied for Lynch syndrome by Center for Human Genetics, Inc

Included ClinVar conditions (18):
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Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP
NM_000179.2(MSH6):c.*1A>G rs587781604
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.2(MSH6):c.1633A>G (p.Lys545Glu) rs1064793403
NM_000179.2(MSH6):c.2341C>A (p.Pro781Thr) rs587779235
NM_000179.2(MSH6):c.3098T>A (p.Met1033Lys) rs751035257
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_000179.2(MSH6):c.3743_3744insT (p.Tyr1249fs) rs786201084
NM_000179.2(MSH6):c.3787C>T (p.Arg1263Cys) rs367912290
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.524C>T (p.Ala175Val) rs1060502929
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000179.2(MSH6):c.719G>A (p.Arg240Gln) rs542848931
NM_000179.2(MSH6):c.942C>G (p.Ser314Arg) rs150440246
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1633dup (p.Thr545fs) rs1553658104
NM_000249.3(MLH1):c.1685A>C (p.Gln562Pro) rs1553659377
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.3(MLH1):c.589C>T (p.Gln197Ter) rs1553644123
NM_000249.3(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.3(MLH1):c.885-21TC[2] rs267607804
NM_000251.2(MSH2):c.1662-9G>A rs17218356
NM_000251.2(MSH2):c.1690A>G (p.Thr564Ala) rs55778204
NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.2(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2500G>A (p.Ala834Thr) rs63750757
NM_000251.2(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.2(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.2(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.2(MSH2):c.464T>A (p.Val155Asp) rs876658188
NM_000251.2(MSH2):c.505A>G (p.Ile169Val) rs63750716
NM_000251.2(MSH2):c.888C>G (p.Phe296Leu) rs876659918
NM_001167617.2(MLH1):c.1206_1208del (p.Ile403del) rs587778920
NM_001281492.1(MSH6):c.3569_3572del (p.Ala1190fs) rs267608120
NM_001281493.1(MSH6):c.-41_-40delinsAA rs267608079
NM_001354630.1(MLH1):c.1732-878_1732-877delinsGC rs35502531

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