ClinVar Miner

List of variants in gene MSH6 reported as uncertain significance for Lynch syndrome 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000179.3(MSH6):c.1501C>T (p.His501Tyr) rs779411998 0.00002
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile) rs375974046 0.00001
NM_000179.3(MSH6):c.1503T>G (p.His501Gln) rs1572723237
NM_000179.3(MSH6):c.2782A>G (p.Thr928Ala) rs1057519255
NM_000179.3(MSH6):c.3556+5_3556+8delinsCATTATTGTCAGG rs2104510542
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.3(MSH6):c.4072A>G (p.Lys1358Glu) rs199739099
NM_000179.3(MSH6):c.726C>A (p.Ser242Arg) rs1553412151

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