List of variants studied for severe early-onset pulmonary alveolar proteinosis due to MARS deficiency by Mendelics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_015909.4(NBAS):c.4913G>A (p.Arg1638His)	rs146449593	0.00303
NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr)	rs199717686	0.00049
NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe)	rs201084909	0.00047
NM_015909.4(NBAS):c.680A>C (p.His227Pro)	rs748880753	0.00001
NM_004990.4(MARS1):c.1148C>G (p.Thr383Ser)	rs1594821285
NM_004990.4(MARS1):c.1244G>T (p.Gly415Val)	rs1594821386
NM_015909.4(NBAS):c.335+1G>A	rs1573008071

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