ClinVar Miner

List of variants studied for severe early-onset pulmonary alveolar proteinosis due to MARS deficiency by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_015909.4(NBAS):c.2827G>T (p.Glu943Ter) rs143012720 0.00004
NM_015909.4(NBAS):c.2951T>G (p.Ile984Ser) rs140841721 0.00001

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