ClinVar Miner

List of variants in gene PMS1 studied for Lynch syndrome

Included ClinVar conditions (18):
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_000534.4(PMS1):c.*10T>A rs5743199
NM_000534.4(PMS1):c.*168G>A rs886055369
NM_000534.4(PMS1):c.-100G>T rs5742932
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.-24G>C rs5742933
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.1181T>C (p.Met394Thr) rs1145231
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.141T>C (p.Tyr47=) rs5742980
NM_000534.4(PMS1):c.1501G>A (p.Gly501Arg) rs1145232
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.2377T>C (p.Tyr793His) rs1145234
NM_000534.4(PMS1):c.2474-7C>A rs767622075
NM_000534.4(PMS1):c.315+6G>A rs5742981
NM_000534.4(PMS1):c.345T>C (p.Asp115=) rs2066457
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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