ClinVar Miner

List of variants studied for hereditary pulmonary alveolar proteinosis by Revvity Omics, Revvity

Included ClinVar conditions (9):
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Total variants: 23
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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.1467+1740T>C rs552204965 0.00201
NM_000395.3(CSF2RB):c.1943C>T (p.Pro648Leu) rs200724880 0.00081
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val) rs201685063 0.00041
NM_001089.3(ABCA3):c.-539+1575G>A rs558730796 0.00029
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575 0.00029
NM_001089.3(ABCA3):c.3505G>A (p.Val1169Met) rs546091864 0.00024
NM_001317778.2(SFTPC):c.150T>G (p.Ile50Met) rs768981838 0.00005
NM_000542.5(SFTPB):c.*922G>A rs1031733411 0.00004
NM_001089.3(ABCA3):c.1912C>T (p.Arg638Cys) rs545166587 0.00003
NM_001089.3(ABCA3):c.2032G>A (p.Ala678Thr) rs769584477 0.00001
NM_001089.3(ABCA3):c.419A>G (p.Asn140Ser) rs1055065367 0.00001
NM_001317778.2(SFTPC):c.455C>T (p.Thr152Met) rs1306348581 0.00001
NM_000395.3(CSF2RB):c.2245G>C (p.Ala749Pro) rs2518010646
NM_000542.5(SFTPB):c.361delinsGAA (p.Pro121fs) rs35328240
NM_000542.5(SFTPB):c.479del (p.Leu160fs) rs2466687208
NM_001089.3(ABCA3):c.1286-2A>G rs2141715669
NM_001089.3(ABCA3):c.2258A>C (p.Lys753Thr) rs2505639735
NM_001089.3(ABCA3):c.2513+311del rs528346746
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del) rs750862009
NM_001089.3(ABCA3):c.3805G>C (p.Glu1269Gln) rs776731355
NM_001089.3(ABCA3):c.3997del (p.Arg1333fs) rs2505619063
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr) rs121917834

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