ClinVar Miner

List of variants in gene PMS2 reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NC_000007.13:g.(?_6026380)_(6027261_?)dup
NC_000007.13:g.(?_6026384)_(6027257_?)dup
NC_000007.13:g.(?_6036951)_(6038912_?)dup
NC_000007.13:g.(?_6038729)_(6038916_?)del
NC_000007.13:g.(?_6045513)_(6045672_?)dup
NM_000535.6(PMS2):c.1145-?_2174+?dup1030
NM_000535.6(PMS2):c.2007-?_2174+?del
NM_000535.6(PMS2):c.9_23+7del rs1562711587
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2006+1G>A rs1554297040
NM_000535.7(PMS2):c.2006+1G>C rs1554297040
NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC rs1562616355
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2175-1G>C rs1562605623
NM_000535.7(PMS2):c.2275+1G>C
NM_000535.7(PMS2):c.2275+1G>T rs1554294393
NM_000535.7(PMS2):c.2275+2T>C rs1562604682
NM_000535.7(PMS2):c.23+1G>T rs587782074
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.2445+1G>C rs876661113
NM_000535.7(PMS2):c.251-1G>T
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter) rs876661203
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.537+1G>A rs863224450
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000535.7(PMS2):c.705+1G>C
NM_000535.7(PMS2):c.803+1G>T rs1562669585
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736
NM_000535.7(PMS2):c.903+1G>C rs1554300689
NM_000535.7(PMS2):c.903+2T>C rs878854059
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153
NM_000535.7(PMS2):c.904-2A>G rs587781339

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