ClinVar Miner

List of variants in gene SMAD6 reported as pathogenic for bone development disease

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_005585.5(SMAD6):c.1416G>A (p.Trp472Ter) rs1432193098 0.00001
NM_005585.5(SMAD6):c.345G>A (p.Trp115Ter) rs1231501584 0.00001
NM_005585.5(SMAD6):c.696G>A (p.Trp232Ter) rs759094719 0.00001
NM_005585.5(SMAD6):c.1010G>A (p.Trp337Ter) rs753110746
NM_005585.5(SMAD6):c.1012G>T (p.Glu338Ter) rs2140681185
NM_005585.5(SMAD6):c.1012del (p.Glu338fs) rs2140681173
NM_005585.5(SMAD6):c.106dup (p.Asp36fs) rs1595756416
NM_005585.5(SMAD6):c.1099dup (p.Cys367fs) rs2140681497
NM_005585.5(SMAD6):c.1132G>T (p.Glu378Ter) rs751622656
NM_005585.5(SMAD6):c.1227del (p.Ile410fs) rs2140681839
NM_005585.5(SMAD6):c.1285A>T (p.Lys429Ter) rs1894566397
NM_005585.5(SMAD6):c.1305dup (p.Ile436fs) rs1255802415
NM_005585.5(SMAD6):c.1309A>T (p.Lys437Ter) rs746469222
NM_005585.5(SMAD6):c.1324G>T (p.Glu442Ter) rs778302338
NM_005585.5(SMAD6):c.136del (p.Ala46fs) rs2140580751
NM_005585.5(SMAD6):c.1419del (p.Cys475fs) rs1894573824
NM_005585.5(SMAD6):c.165C>A (p.Cys55Ter) rs755868380
NM_005585.5(SMAD6):c.217G>T (p.Gly73Ter) rs1893025235
NM_005585.5(SMAD6):c.223C>T (p.Arg75Ter) rs1595756640
NM_005585.5(SMAD6):c.231_255del (p.Gly81fs) rs1893025784
NM_005585.5(SMAD6):c.232_250del (p.Gln78fs) rs965061234
NM_005585.5(SMAD6):c.243del (p.Arg82fs) rs2140581013
NM_005585.5(SMAD6):c.24del (p.Leu9fs) rs2140580364
NM_005585.5(SMAD6):c.263del (p.Gly88fs) rs1199495614
NM_005585.5(SMAD6):c.269dup (p.Arg91fs) rs1006397889
NM_005585.5(SMAD6):c.283del (p.Glu95fs) rs2140581167
NM_005585.5(SMAD6):c.294del (p.Gly99fs) rs2140581198
NM_005585.5(SMAD6):c.2T>C (p.Met1Thr) rs1409145798
NM_005585.5(SMAD6):c.325del (p.Glu109fs) rs2140581279
NM_005585.5(SMAD6):c.352G>T (p.Glu118Ter) rs1324979905
NM_005585.5(SMAD6):c.389C>A (p.Ser130Ter) rs1160042861
NM_005585.5(SMAD6):c.3dup (p.Phe2fs) rs2140580300
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005585.5(SMAD6):c.439_457dup (p.Ala153fs) rs2140581633
NM_005585.5(SMAD6):c.465_471del (p.Gly156fs) rs958818801
NM_005585.5(SMAD6):c.508C>T (p.Gln170Ter) rs1235097131
NM_005585.5(SMAD6):c.511G>A (p.Glu171Lys) rs1893037722
NM_005585.5(SMAD6):c.589del (p.Ser197fs) rs1595757203
NM_005585.5(SMAD6):c.652C>T (p.Gln218Ter) rs1196005021
NM_005585.5(SMAD6):c.67del (p.Glu23fs) rs1893018000
NM_005585.5(SMAD6):c.691C>T (p.Arg231Cys) rs1395007983
NM_005585.5(SMAD6):c.859G>T (p.Glu287Ter) rs570279865
NM_005585.5(SMAD6):c.872del (p.Leu291fs) rs2140596499
NM_005585.5(SMAD6):c.943G>T (p.Glu315Ter) rs1595766210
NM_005585.5(SMAD6):c.957_958insGCAA (p.Ser320fs) rs2140680984

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