ClinVar Miner

List of variants reported as likely pathogenic for Legius syndrome

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Total variants: 7
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NM_152594.3(SPRED1):c.1196dup (p.Phe400fs) rs1555392791
NM_152594.3(SPRED1):c.1_2del (p.Met1fs) rs1555386649
NM_152594.3(SPRED1):c.207+1G>A rs1595733611
NM_152594.3(SPRED1):c.24del (p.Asp9fs) rs1555386654
NM_152594.3(SPRED1):c.3G>A (p.Met1Ile)
NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs) rs1555392750

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