ClinVar Miner

List of variants in gene PMS1 reported as likely benign for Lynch syndrome

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_000534.4(PMS1):c.*10T>A rs5743199
NM_000534.4(PMS1):c.-100G>T rs5742932
NM_000534.4(PMS1):c.-24G>C rs5742933
NM_000534.4(PMS1):c.1181T>C (p.Met394Thr) rs1145231
NM_000534.4(PMS1):c.141T>C (p.Tyr47=) rs5742980
NM_000534.4(PMS1):c.1501G>A (p.Gly501Arg) rs1145232
NM_000534.4(PMS1):c.2377T>C (p.Tyr793His) rs1145234
NM_000534.4(PMS1):c.315+6G>A rs5742981
NM_000534.4(PMS1):c.345T>C (p.Asp115=) rs2066457

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