ClinVar Miner

List of variants in gene PMS1 reported as uncertain significance for Lynch syndrome

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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NM_000534.4(PMS1):c.*168G>A rs886055369
NM_000534.4(PMS1):c.-120G>A rs757537327
NM_000534.4(PMS1):c.-156G>A rs147002700
NM_000534.4(PMS1):c.-193T>C rs886055366
NM_000534.4(PMS1):c.-232G>T rs745440258
NM_000534.4(PMS1):c.-257C>G rs886055365
NM_000534.4(PMS1):c.-266G>C rs547545719
NM_000534.4(PMS1):c.-274T>A rs534415170
NM_000534.4(PMS1):c.-68T>A rs886055367
NM_000534.4(PMS1):c.-99G>T rs577363454
NM_000534.4(PMS1):c.1001C>T (p.Thr334Met) rs147084726
NM_000534.4(PMS1):c.1201A>G (p.Lys401Glu) rs756743623
NM_000534.4(PMS1):c.1332A>G (p.Val444=) rs534243480
NM_000534.4(PMS1):c.1586G>A (p.Ser529Asn) rs56064816
NM_000534.4(PMS1):c.1609G>A (p.Glu537Lys) rs151325573
NM_000534.4(PMS1):c.171C>T (p.Asn57=) rs756254396
NM_000534.4(PMS1):c.174G>T (p.Gly58=) rs143323454
NM_000534.4(PMS1):c.1974C>T (p.Ser658=) rs886055368
NM_000534.4(PMS1):c.1975G>T (p.Ala659Ser) rs747650016
NM_000534.4(PMS1):c.2474-7C>A rs767622075
NM_000534.4(PMS1):c.401C>T (p.Pro134Leu) rs776398978
NM_000534.4(PMS1):c.605G>A (p.Arg202Lys) rs2066459
NM_000534.4(PMS1):c.823-14A>G rs368186524

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