List of variants in gene MARS1 reported as likely pathogenic for severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

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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_004990.4(MARS1):c.1547A>G (p.Tyr516Cys)	rs774227542	0.00001
NM_004990.4(MARS1):c.1793G>A (p.Arg598His)	rs749954063	0.00001
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)	rs587777718	0.00001
NM_004990.4(MARS1):c.920A>G (p.Tyr307Cys)	rs758523839	0.00001

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