ClinVar Miner

List of variants in gene GCM2 reported as pathogenic by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000006.12:g.(?_10875891)_(10881865_?)del
NM_004752.4(GCM2):c.408C>A (p.Tyr136Ter) rs1554103179
NM_004752.4(GCM2):c.456+2dup rs759190203

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