ClinVar Miner

List of variants studied for rhizomelic chondrodysplasia punctata by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003659.4(AGPS):c.1037_1043del (p.Glu346fs) rs2105675391
NM_014236.4(GNPAT):c.442C>T (p.Gln148Ter) rs1571946866

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