ClinVar Miner

List of variants in gene NPM1 studied for bone cancer

Included ClinVar conditions (72):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_002520.7(NPM1):c.847-5T>C rs191111314 0.01680
NM_002520.7(NPM1):c.543T>C (p.Phe181=) rs61755048 0.00991
NM_002520.7(NPM1):c.*101T>C rs530255077
NM_002520.7(NPM1):c.*1del rs2113301429
NM_002520.7(NPM1):c.*29A>T rs200638434
NM_002520.7(NPM1):c.*2A>G rs2113301446
NM_002520.7(NPM1):c.*33T>C rs2113301714
NM_002520.7(NPM1):c.*73T>C rs2113302170
NM_002520.7(NPM1):c.*75C>T rs2113302182
NM_002520.7(NPM1):c.*76T>C rs2113302197
NM_002520.7(NPM1):c.*80T>A rs2113302213
NM_002520.7(NPM1):c.*81A>T rs1271696160
NM_002520.7(NPM1):c.*98C>T rs2113302335
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs) rs587776806
NM_002520.7(NPM1):c.862_863insCATG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insCCTG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insTCAG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insTCTG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.863_864insCATG (p.Trp288fs) rs1554138188
NM_002520.7(NPM1):c.863_864insCCTG (p.Trp288fs) rs1554138189
NM_002520.7(NPM1):c.863_864insCGTG (p.Trp288fs) rs1554138188
NM_002520.7(NPM1):c.864_873delinsTTTAAGGATTCGTC (p.Trp288fs) rs1581263026
NM_002520.7(NPM1):c.869_875delinsCCCTGGCTAGG (p.Trp290fs) rs1561878500
NM_002520.7(NPM1):c.875del (p.Lys292fs) rs2113301331
NM_002520.7(NPM1):c.885A>G (p.Ter295=) rs2113301391
NR_149149.2(NPM1):n.858_859del rs2113301411

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