List of variants in gene SFTPB reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000542.5(SFTPB):c.392C>T (p.Thr131Ile)	rs1130866	0.57811
NM_000542.3(SFTPB):c.5A>C (p.His2Pro)	rs2077079	0.39035
NM_000542.5(SFTPB):c.196-8C>A	rs3024798	0.36098
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.529G>A (p.Val177Ile)	rs34550459	0.00607
NM_000542.5(SFTPB):c.291G>A (p.Glu97=)	rs34682912	0.00255
NM_000542.5(SFTPB):c.548G>A (p.Gly183Glu)	rs35524245	0.00023
NM_000542.5(SFTPB):c.708C>T (p.Arg236=)	rs367661082	0.00011
NM_000542.5(SFTPB):c.357C>T (p.Tyr119=)	rs368293273	0.00006
NM_000542.5(SFTPB):c.29TGC[4] (p.Leu14del)	rs147057701
NM_000542.5(SFTPB):c.741G>A (p.Gln247=)	rs727503418

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