ClinVar Miner

List of variants reported as pathogenic by Institute of Bioinformatics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.344_351dup (p.Asp118fs) rs1796176171
NM_006096.4(NDRG1):c.537+2_537+10del rs2130719557
NM_018294.6(CWF19L1):c.1375-2A>G

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