ClinVar Miner

List of variants reported as uncertain significance for Lynch syndrome by Department of Pathology and Laboratory Medicine,Sinai Health System

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000179.2(MSH6):c.1553C>A (p.Thr518Asn) rs1553412945
NM_000179.2(MSH6):c.2949G>C (p.Glu983Asp) rs780485157
NM_000179.2(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.2(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.2(MSH6):c.3401G>C (p.Gly1134Ala) rs1376398586
NM_000179.2(MSH6):c.3438+11_3438+14delCTTA rs377746844
NM_000179.2(MSH6):c.979A>G (p.Thr327Ala) rs730881814
NM_000251.2(MSH2):c.1805T>C (p.Leu602Pro) rs1553368561
NM_000251.2(MSH2):c.1937A>G (p.Asp646Gly) rs41295290
NM_000251.2(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.2(MSH2):c.2178G>C (p.Met726Ile) rs587782396
NM_000535.5(PMS2):c.2249G>A (p.Gly750Asp) rs587779337
NM_000535.6(PMS2):c.-13G>C rs747488315
NM_000535.6(PMS2):c.23+7G>T rs878854047
NM_000535.6(PMS2):c.251-11C>G rs761795058
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.6(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.6(PMS2):c.736C>A (p.Pro246Thr) rs765668173
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn) rs876660139

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