ClinVar Miner

List of variants in gene ZMPSTE24 reported as uncertain significance for Lethal tight skin contracture syndrome; Mandibuloacral dysplasia with type B lipodystrophy

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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_005857.5(ZMPSTE24):c.260C>T (p.Thr87Ile)	rs372440430	0.00004
NM_005857.5(ZMPSTE24):c.1416G>T (p.Met472Ile)	rs763989458	0.00001

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