ClinVar Miner

List of variants studied for Lynch syndrome 1 by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.481G>A (p.Val161Ile) rs149511545 0.00019
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu) rs201334592 0.00005
NM_000251.3(MSH2):c.1530G>C (p.Gln510His) rs587782355 0.00004
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp) rs587781453 0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala) rs150503781 0.00002
NM_000251.3(MSH2):c.894G>C (p.Gln298His) rs587781397 0.00002
NM_000251.3(MSH2):c.1148G>A (p.Arg383Gln) rs376934727 0.00001
NM_000251.3(MSH2):c.1166G>A (p.Arg389Gln) rs757276241 0.00001
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val) rs755920849 0.00001
NM_000251.3(MSH2):c.2569A>G (p.Ile857Val) rs753459308 0.00001
NM_000251.3(MSH2):c.2661C>G (p.Phe887Leu) rs1290935051 0.00001
NM_000251.3(MSH2):c.715C>G (p.Gln239Glu) rs63750488 0.00001
NM_000251.3(MSH2):c.14C>T (p.Pro5Leu) rs56170584
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile) rs201118107
NM_000251.3(MSH2):c.174C>G (p.Phe58Leu) rs372189599
NM_000251.3(MSH2):c.215C>G (p.Ala72Gly) rs1558457009
NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr) rs587781447
NM_000251.3(MSH2):c.403C>G (p.Leu135Val) rs193096019
NM_000251.3(MSH2):c.56T>C (p.Phe19Ser) rs1320061495
NM_000251.3(MSH2):c.62G>C (p.Arg21Pro) rs730881760

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