ClinVar Miner

List of variants reported as uncertain significance for Bruck syndrome by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_182943.3(PLOD2):c.778-6T>G rs768543431 0.00001
NM_182943.3(PLOD2):c.2270A>T (p.Asp757Val) rs1936095846

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