ClinVar Miner

List of variants studied for Lynch syndrome by CSER _CC_NCGL, University of Washington

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.2(MSH6):c.3299C>T (p.Thr1100Met) rs63750442
NM_000179.2(MSH6):c.383G>T (p.Arg128Leu) rs63750143
NM_000179.2(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000249.3(MLH1):c.1637A>G (p.Lys546Arg) rs587779954
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1803G>C (p.Gln601His) rs1553368556
NM_000251.2(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.2(MSH2):c.471C>A (p.Gly157=) rs61756463
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057
NM_000535.7(PMS2):c.1144+1G>A rs373885654
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131
NM_001040108.1(MLH3):c.3440A>T (p.Asn1147Ile) rs142124529
NM_002354.2(EPCAM):c.267G>C (p.Gln89His) rs146480420

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