ClinVar Miner

List of variants in gene NPM1 reported as pathogenic for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_002520.6(NPM1):c.860_863dupTCTG rs587776806
NM_002520.6(NPM1):c.863_864insCATG (p.Trp288fs) rs1554138188
NM_002520.6(NPM1):c.863_864insCCTG (p.Trp288fs) rs1554138189
NM_002520.6(NPM1):c.863_864insCGTG (p.Trp288fs) rs1554138188
NM_002520.6(NPM1):c.864_873delinsTTTAAGGATTCGTC (p.Trp288fs) rs1581263026
NM_199185.3(NPM1):c.782_788delinsCCCTGGCTAGG (p.Trp261fs) rs1561878500

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