ClinVar Miner

List of variants in gene SFTPB reported as uncertain significance for hereditary pulmonary alveolar proteinosis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser) rs35373464 0.00256
NM_000542.5(SFTPB):c.*1488A>G rs560513740 0.00105
NM_198843.3(SFTPB):c.-31C>T rs35509268 0.00080
NM_000542.5(SFTPB):c.*2143C>A rs546289871 0.00048
NM_000542.5(SFTPB):c.547G>A (p.Gly183Arg) rs184494733 0.00033
NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala) rs141905538 0.00025
NM_000542.5(SFTPB):c.548G>A (p.Gly183Glu) rs35524245 0.00023
NM_000542.5(SFTPB):c.352G>A (p.Asp118Asn) rs45557339 0.00019
NM_000542.5(SFTPB):c.570G>C (p.Gly190=) rs141123597 0.00019
NM_000542.5(SFTPB):c.*1805G>A rs558265142 0.00016
NM_000542.5(SFTPB):c.780G>A (p.Thr260=) rs528288865 0.00016
NM_000542.5(SFTPB):c.928G>A (p.Gly310Arg) rs201986026 0.00016
NM_000542.5(SFTPB):c.422G>A (p.Gly141Asp) rs549877442 0.00013
NM_000542.5(SFTPB):c.827G>A (p.Arg276Gln) rs201996765 0.00013
NM_000542.5(SFTPB):c.546C>T (p.Pro182=) rs45505791 0.00012
NM_000542.5(SFTPB):c.225C>T (p.Ile75=) rs145895555 0.00011
NM_000542.5(SFTPB):c.437G>A (p.Arg146Gln) rs367831550 0.00009
NM_000542.5(SFTPB):c.1028C>T (p.Thr343Met) rs567506649 0.00008
NM_000542.5(SFTPB):c.190G>A (p.Gly64Arg) rs148914290 0.00008
NM_000542.5(SFTPB):c.494G>A (p.Arg165Gln) rs370750455 0.00008
NM_000542.5(SFTPB):c.*1607G>A rs886056383 0.00006
NM_000542.5(SFTPB):c.560C>T (p.Ala187Val) rs756571077 0.00006
NM_000542.5(SFTPB):c.913G>A (p.Val305Met) rs765720471 0.00006
NM_198843.3(SFTPB):c.-59G>A rs762253717 0.00006
NM_000542.5(SFTPB):c.*2366A>C rs868422895 0.00005
NM_000542.5(SFTPB):c.1010A>T (p.Gln337Leu) rs143687195 0.00005
NM_000542.5(SFTPB):c.611C>T (p.Pro204Leu) rs150799880 0.00005
NM_000542.5(SFTPB):c.*922G>A rs1031733411 0.00004
NM_000542.5(SFTPB):c.226G>A (p.Val76Ile) rs753519344 0.00004
NM_000542.5(SFTPB):c.373G>A (p.Asp125Asn) rs140667432 0.00004
NM_000542.5(SFTPB):c.376T>G (p.Tyr126Asp) rs184305471 0.00004
NM_000542.5(SFTPB):c.1090G>A (p.Gly364Arg) rs750958534 0.00003
NM_000542.5(SFTPB):c.32T>C (p.Leu11Pro) rs886056385 0.00003
NM_000542.5(SFTPB):c.41T>C (p.Leu14Pro) rs886056384 0.00003
NM_000542.5(SFTPB):c.472G>C (p.Asp158His) rs778541429 0.00003
NM_000542.5(SFTPB):c.583-15T>C rs202098250 0.00003
NM_000542.5(SFTPB):c.650G>A (p.Arg217Gln) rs762917358 0.00003
NM_000542.5(SFTPB):c.709G>A (p.Val237Met) rs762818048 0.00003
NM_000542.5(SFTPB):c.763G>A (p.Val255Ile) rs186576601 0.00003
NM_000542.5(SFTPB):c.826C>T (p.Arg276Trp) rs542291993 0.00003
NM_000542.5(SFTPB):c.920C>T (p.Thr307Ile) rs1452599862 0.00003
NM_000542.5(SFTPB):c.*1873T>G rs1056262339 0.00002
NM_000542.5(SFTPB):c.*2173G>A rs1001586761 0.00002
NM_000542.5(SFTPB):c.1083+7C>T rs955981915 0.00002
NM_000542.5(SFTPB):c.839A>G (p.Asp280Gly) rs756396147 0.00002
NM_198843.3(SFTPB):c.-109C>G rs562887288 0.00002
NM_000542.5(SFTPB):c.*2062C>T rs886056382 0.00001
NM_000542.5(SFTPB):c.*902C>T rs1677155582 0.00001
NM_000542.5(SFTPB):c.1138G>A (p.Asp380Asn) rs370785493 0.00001
NM_000542.5(SFTPB):c.136G>T (p.Ala46Ser) rs774179232 0.00001
NM_000542.5(SFTPB):c.407T>A (p.Ile136Asn) rs1210349465 0.00001
NM_000542.5(SFTPB):c.582+5G>A rs755711266 0.00001
NM_000542.5(SFTPB):c.61G>A (p.Gly21Ser) rs1677747290 0.00001
NM_000542.5(SFTPB):c.673-8C>T rs987518026 0.00001
NM_000542.5(SFTPB):c.725C>T (p.Ala242Val) rs759213352 0.00001
NM_000542.5(SFTPB):c.814C>T (p.Arg272Cys) rs1056015131 0.00001
NM_000542.5(SFTPB):c.940G>A (p.Glu314Lys) rs899331882 0.00001
NM_000542.3(SFTPB):c.14G>A (p.Gly5Glu) rs1677755478
NM_000542.5(SFTPB):c.*1756C>G rs1677128089
NM_000542.5(SFTPB):c.1021C>G (p.Gln341Glu) rs1677335461
NM_000542.5(SFTPB):c.1065T>C (p.Asp355=) rs1677332584
NM_000542.5(SFTPB):c.1122G>A (p.Gln374=)
NM_000542.5(SFTPB):c.1139A>T (p.Asp380Val) rs2466655634
NM_000542.5(SFTPB):c.133C>A (p.Gln45Lys) rs1427648151
NM_000542.5(SFTPB):c.220G>A (p.Asp74Asn)
NM_000542.5(SFTPB):c.268-14C>T rs1677669022
NM_000542.5(SFTPB):c.304G>A (p.Val102Ile) rs767270671
NM_000542.5(SFTPB):c.304G>C (p.Val102Leu) rs767270671
NM_000542.5(SFTPB):c.370A>G (p.Ile124Val) rs2466699768
NM_000542.5(SFTPB):c.413T>C (p.Met138Thr) rs777381019
NM_000542.5(SFTPB):c.416A>T (p.His139Leu) rs2466687961
NM_000542.5(SFTPB):c.470C>T (p.Ser157Leu)
NM_000542.5(SFTPB):c.476C>G (p.Pro159Arg) rs2466687289
NM_000542.5(SFTPB):c.47C>T (p.Thr16Met)
NM_000542.5(SFTPB):c.490C>G (p.Leu164Val) rs2466687012
NM_000542.5(SFTPB):c.560C>A (p.Ala187Glu) rs756571077
NM_000542.5(SFTPB):c.673-14C>A rs778349143
NM_000542.5(SFTPB):c.751G>A (p.Glu251Lys)
NM_000542.5(SFTPB):c.761_765dup (p.Ile256fs) rs2466675243
NM_000542.5(SFTPB):c.820G>A (p.Val274Ile)
NM_000542.5(SFTPB):c.835A>G (p.Met279Val)
NM_000542.5(SFTPB):c.836T>G (p.Met279Arg) rs1283205794
NM_000542.5(SFTPB):c.896G>C (p.Cys299Ser)
NM_000542.5(SFTPB):c.91G>C (p.Ala31Pro)
NM_000542.5(SFTPB):c.925G>A (p.Ala309Thr)
NM_000542.5(SFTPB):c.950T>C (p.Ile317Thr)
NM_000542.5(SFTPB):c.986G>C (p.Trp329Ser) rs769758832
NM_000542.5(SFTPB):c.986G>T (p.Trp329Leu)

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