ClinVar Miner

List of variants studied for RASopathy by Department of Research and Development,Institute Hermes Pardini

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000267.3(NF1):c.288+1del rs1057519370
NM_000267.3(NF1):c.6889dup (p.Val2297fs) rs1057519369
NM_001042492.2(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032

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