ClinVar Miner

List of variants in gene SFTPB reported as benign for pulmonary alveolar proteinosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000542.5(SFTPB):c.856+16A>C rs893159 0.93702
NM_000542.5(SFTPB):c.392C>T (p.Thr131Ile) rs1130866 0.57811
NM_198843.3(SFTPB):c.-32A>C rs2077079 0.39035
NM_000542.5(SFTPB):c.196-8C>A rs3024798 0.36098
NM_000542.5(SFTPB):c.856+29A>G rs2304566 0.20768
NM_000542.5(SFTPB):c.*857C>T rs3024828 0.07628
NM_000542.5(SFTPB):c.843C>T (p.Asp281=) rs3024810 0.07523
NM_000542.5(SFTPB):c.48G>A (p.Thr16=) rs3024793 0.02497
NM_000542.5(SFTPB):c.*1189A>C rs114238614 0.00906
NM_000542.5(SFTPB):c.*1847C>T rs115696450 0.00866
NM_000542.5(SFTPB):c.529G>A (p.Val177Ile) rs34550459 0.00607
NM_000542.5(SFTPB):c.847G>A (p.Ala283Thr) rs36210375 0.00524
NM_000542.5(SFTPB):c.526C>T (p.Leu176Phe) rs3024801 0.00264
NM_000542.5(SFTPB):c.291G>A (p.Glu97=) rs34682912 0.00255
NM_000542.5(SFTPB):c.633C>T (p.Cys211=) rs35049407 0.00247
NM_000542.5(SFTPB):c.1029G>A (p.Thr343=) rs45606043 0.00074
NM_000542.5(SFTPB):c.576C>T (p.His192=) rs45601634 0.00068
NM_000542.5(SFTPB):c.708C>T (p.Arg236=) rs367661082 0.00011
NM_000542.5(SFTPB):c.815G>A (p.Arg272His) rs3024809
NM_000542.5(SFTPB):c.857-18del

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