ClinVar Miner

List of variants in gene PLOD2 reported as pathogenic for Bruck syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_182943.3(PLOD2):c.1559dup (p.Val523fs) rs749709000
NM_182943.3(PLOD2):c.1856G>A (p.Arg619His) rs121434461
NM_182943.3(PLOD2):c.1865G>T (p.Gly622Val) rs121434460
NM_182943.3(PLOD2):c.1886C>T (p.Thr629Ile) rs121434459

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