ClinVar Miner

List of variants in gene EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965, NF1, OMG studied for RASopathy

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NC_000017.10:g.(?_29422318)_(29701183_?)del
NC_000017.10:g.(?_29422318)_(29701183_?)dup
NC_000017.10:g.(?_29422322)_(29701179_?)dup
NM_000267.3(NF1):c.-383_*3522del
NM_001042492.2(NF1):c.(?_-50)_(*68_?)del

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