ClinVar Miner

List of variants in gene MSH3 reported as likely pathogenic for attenuated familial adenomatous polyposis

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_002439.5(MSH3):c.1341-1G>T rs61754780 0.00004
NM_002439.5(MSH3):c.1764-1G>A rs367544716 0.00003
NM_002439.5(MSH3):c.2436-1G>A rs200639359 0.00003
NM_002439.5(MSH3):c.1341-2A>G rs750876165 0.00001
NM_002439.5(MSH3):c.1454-2A>G rs1554070317 0.00001
NM_002439.5(MSH3):c.1764-2A>G rs773032453 0.00001
NM_002439.5(MSH3):c.2212A>T (p.Lys738Ter) rs1580035037 0.00001
NM_002439.5(MSH3):c.238-2A>G rs1749285874 0.00001
NM_002439.5(MSH3):c.358+2T>G rs1450314617 0.00001
NM_002439.5(MSH3):c.792+1G>A rs749929790 0.00001
NM_002439.5(MSH3):c.1173+1_1173+5del
NM_002439.5(MSH3):c.1454-1G>T
NM_002439.5(MSH3):c.1534G>T (p.Glu512Ter) rs1379605717
NM_002439.5(MSH3):c.1568+1G>C
NM_002439.5(MSH3):c.1653+1G>A rs550626088
NM_002439.5(MSH3):c.1653+2_1653+3delinsGT
NM_002439.5(MSH3):c.1763+2T>C rs376456666
NM_002439.5(MSH3):c.1896+1G>A rs1330593620
NM_002439.5(MSH3):c.1896+2T>C rs1580027713
NM_002439.5(MSH3):c.1897-1G>A rs1744149615
NM_002439.5(MSH3):c.2084+1G>A rs2112884587
NM_002439.5(MSH3):c.2253+2T>A rs2112885348
NM_002439.5(MSH3):c.2253_2253+1insAT
NM_002439.5(MSH3):c.2254-2A>G
NM_002439.5(MSH3):c.2319-1G>A rs866260675
NM_002439.5(MSH3):c.2319-1G>C rs866260675
NM_002439.5(MSH3):c.2319-2A>G rs1197719947
NM_002439.5(MSH3):c.238-1G>A rs1749285930
NM_002439.5(MSH3):c.2435+1G>C rs1744356530
NM_002439.5(MSH3):c.2435+2T>C rs1580045730
NM_002439.5(MSH3):c.2543+1G>A rs758437568
NM_002439.5(MSH3):c.2543+2T>C
NM_002439.5(MSH3):c.2654_2655+13delinsTATTTGG
NM_002439.5(MSH3):c.2655+1G>A rs1580053768
NM_002439.5(MSH3):c.2655+1G>T
NM_002439.5(MSH3):c.2813+1G>A rs2112054627
NM_002439.5(MSH3):c.2994_3000+2del
NM_002439.5(MSH3):c.3000+1G>A
NM_002439.5(MSH3):c.3001-1G>A rs2112118327
NM_002439.5(MSH3):c.3001-2A>G rs886037878
NM_002439.5(MSH3):c.3130+1G>A rs2112118578
NM_002439.5(MSH3):c.3292_3295del (p.Asn1098fs)
NM_002439.5(MSH3):c.3302+1G>A
NM_002439.5(MSH3):c.3302+2T>A
NM_002439.5(MSH3):c.358+1G>T
NM_002439.5(MSH3):c.359-1G>C
NM_002439.5(MSH3):c.359-2A>G
NM_002439.5(MSH3):c.579+1G>A rs2112809006
NM_002439.5(MSH3):c.579+1G>T
NM_002439.5(MSH3):c.763A>T (p.Lys255Ter)
NM_002439.5:c.(-54_?)_(358+50_359-50)del

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