ClinVar Miner

List of variants studied for hereditary pulmonary alveolar proteinosis by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00293
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001089.3(ABCA3):c.1288A>G (p.Met430Val) rs751315023 0.00003
NM_001089.3(ABCA3):c.3534G>A (p.Met1178Ile) rs778869149 0.00002
NM_001089.3(ABCA3):c.1408A>C (p.Met470Leu) rs772941826 0.00001
NM_001317778.2(SFTPC):c.435+2T>C rs2131819081
NM_001317778.2(SFTPC):c.443C>T (p.Pro148Leu) rs752593536

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