List of variants in gene UMOD reported as pathogenic by Athena Diagnostics Inc

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del)	rs1555487528
NM_003361.4(UMOD):c.553C>T (p.Arg185Cys)	rs1567310155
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly)	rs1567310019
NM_003361.4(UMOD):c.944G>A (p.Cys315Tyr)	rs398123698

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