List of variants reported as uncertain significance for Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile)	rs146851019	0.00066
NM_004990.4(MARS1):c.854T>C (p.Ile285Thr)	rs141105798	0.00004
NM_004990.4(MARS1):c.1294-19C>G	rs368800423	0.00003
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn)	rs201007223	0.00003
NM_004990.4(MARS1):c.1785_1786insTT (p.Lys596fs)	rs746023775	0.00001
NM_004990.4(MARS1):c.631G>A (p.Ala211Thr)	rs147034935	0.00001
NM_004990.4(MARS1):c.1148C>G (p.Thr383Ser)	rs1594821285
NM_004990.4(MARS1):c.1244G>T (p.Gly415Val)	rs1594821386
NM_004990.4(MARS1):c.2408A>C (p.Gln803Pro)	rs1877788467
NM_004990.4(MARS1):c.280-1G>A
NM_004990.4(MARS1):c.447G>C (p.Trp149Cys)

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