ClinVar Miner

List of variants in gene NUBPL reported as pathogenic for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440
NM_025152.3(NUBPL):c.351G>A (p.Met117Ile)
NM_025152.3(NUBPL):c.579A>C (p.Leu193Phe) rs552722349
NM_025152.3(NUBPL):c.667_668insCCTTGTGCTG (p.Glu223delinsAlaLeuCysTer) rs879255565
NM_025152.3(NUBPL):c.693+1G>A rs751631278
NM_025152.3(NUBPL):c.726C>G (p.Phe242Leu) rs767543623

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