ClinVar Miner

List of variants in gene LOC108281182, NF1 studied for RASopathy

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000017.11:g.(?_31325800)_(31360723_?)del
NC_000017.11:g.(?_31334559)_(31359035_?)del
NM_000267.3(NF1):c.4773-1597_7395-685dup
NM_000267.3(NF1):c.7000-499_7908-479del
NM_001042492.3(NF1):c.7321+383_7925del
NM_001042492.3(NF1):c.7458-600_7615+735del

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