ClinVar Miner

List of variants in gene combination LOC129930253, ZMPSTE24 reported as uncertain significance for Mandibuloacral dysplasia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005857.4(ZMPSTE24):c.-46G>A	rs200527699	0.00158
NM_005857.4(ZMPSTE24):c.-55C>G	rs1057515558	0.00003

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