List of variants reported as pathogenic for severe early-onset pulmonary alveolar proteinosis due to MARS deficiency by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_015909.4(NBAS):c.2423+404G>C	rs1019313682	0.00004
NM_004990.4(MARS1):c.1568T>C (p.Ile523Thr)	rs201555303	0.00003
NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp)	rs897487519	0.00003
NC_000012.11:g.57892346A>G	rs766466297	0.00001
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu)	rs140467171	0.00001
NM_015909.4(NBAS):c.2708T>G (p.Leu903Arg)	rs368196005	0.00001
NM_004990.3(MARS):c.[1700C>T;1177G>A]
NM_004990.4(MARS1):c.1814A>T (p.Asp605Val)	rs756021768
NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro)	rs796052121
NM_015909.4(NBAS):c.558_560del (p.Ile187del)	rs796065037
NM_015909.4(NBAS):c.603_605del (p.Leu202del)	rs796065038
NM_015909.4(NBAS):c.686dup (p.Ser230fs)	rs759315662

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