List of variants in gene MRPS22 reported as likely pathogenic for Hypotonia with lactic acidemia and hyperammonemia

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_020191.4(MRPS22):c.509G>A (p.Arg170His)	rs119478059	0.00012
NM_020191.4(MRPS22):c.481dup (p.Ile161fs)
NM_020191.4(MRPS22):c.992_993del (p.Phe331fs)

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