ClinVar Miner

List of variants in gene ISCU reported as pathogenic by OMIM

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_213595.4(ISCU):c.149G>A (p.Gly50Glu)	rs267607190	0.00003
NM_213595.4(ISCU):c.418+382G>C	rs767000507	0.00001

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