ClinVar Miner

List of variants reported as pathogenic by NYU Undiagnosed Diseases Program, NYU School of Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001287.6(CLCN7):c.1617+119G>A rs922106856
NM_001288705.3(CSF1R):c.2442+2dup rs2113779247
NM_031263.4(HNRNPK):c.673T>C (p.Tyr225His) rs1588417800

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