ClinVar Miner

List of variants in gene ZMPSTE24 studied for Mandibuloacral dysplasia

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005857.4(ZMPSTE24):c.-172A>C	rs151221982	0.00076
NM_005857.5(ZMPSTE24):c.*702C>T	rs900182370	0.00015
NM_005857.5(ZMPSTE24):c.*181GAAT[1]	rs1040401350
NM_005857.5(ZMPSTE24):c.951_954+2del	rs747563189

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