ClinVar Miner

List of variants in gene combination LOC129930253, ZMPSTE24 reported by ZMPSTE24 homepage - Leiden Muscular Dystrophy pages

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005857.5(ZMPSTE24):c.54dup (p.Ile19fs)	rs281875361	0.00003
NM_005857.5(ZMPSTE24):c.121C>T (p.Gln41Ter)	rs121908094	0.00001
NM_005857.5(ZMPSTE24):c.50del (p.Lys17fs)	rs281875360

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