ClinVar Miner

List of variants studied for LEOPARD syndrome 2 by Mendelics

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Total variants: 5
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NM_001354689.3(RAF1):c.1142G>C (p.Gly381Ala) rs397516813
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_001354689.3(RAF1):c.773C>G (p.Thr258Arg) rs1575573330
NM_001354689.3(RAF1):c.776C>A (p.Ser259Tyr) rs397516827

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