ClinVar Miner

List of variants in gene BMP1 studied for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_006129.5(BMP1):c.2576-103C>T rs4463424 0.99968
NM_006129.5(BMP1):c.2827-89C>T rs11778448 0.26144
NM_006129.5(BMP1):c.*145T>C rs7001 0.20026
NM_006129.5(BMP1):c.2688C>T (p.Ala896=) rs4076619 0.13111
NM_006129.5(BMP1):c.1770T>C (p.Ala590=) rs2229777 0.11345
NM_006129.5(BMP1):c.2640C>A (p.Gly880=) rs77242743 0.07587
NM_006129.5(BMP1):c.2155G>A (p.Val719Ile) rs11996036 0.07088
NM_006129.5(BMP1):c.2205C>G (p.Leu735=) rs28710878 0.03417
NM_006129.5(BMP1):c.2575+14T>C rs28374147 0.03056
NM_006129.5(BMP1):c.1766-5C>T rs76809016 0.02982
NM_006129.5(BMP1):c.*444C>T rs73670384 0.02217
NM_006129.5(BMP1):c.2115C>T (p.Asp705=) rs61729094 0.01618
NM_006129.5(BMP1):c.*108A>C rs556361110 0.01272
NM_006129.5(BMP1):c.*350C>T rs77383472 0.01241
NM_006129.5(BMP1):c.2450T>C (p.Val817Ala) rs80019749 0.01155
NM_006129.5(BMP1):c.*44G>C rs75202363 0.00974
NM_006129.5(BMP1):c.*22G>A rs10093980 0.00767
NM_006129.5(BMP1):c.1297+14C>T rs151163052 0.00746
NM_006129.5(BMP1):c.2234-20C>T rs142089697 0.00555
NM_006129.5(BMP1):c.879C>T (p.Asn293=) rs35120584 0.00529
NM_006129.5(BMP1):c.1112G>A (p.Arg371His) rs145284541 0.00427
NM_006129.5(BMP1):c.*223C>T rs79496486 0.00402
NM_006129.5(BMP1):c.2234-12G>A rs200787977 0.00370
NM_006129.5(BMP1):c.*328T>C rs113594473 0.00310
NM_006129.5(BMP1):c.*452A>C rs117522390 0.00293
NM_006129.5(BMP1):c.2154C>T (p.Cys718=) rs61729095 0.00243
NM_006129.5(BMP1):c.2406C>T (p.Tyr802=) rs144666655 0.00113
NM_006129.5(BMP1):c.941G>A (p.Arg314His) rs538263166 0.00100
NM_006129.5(BMP1):c.2134G>A (p.Gly712Ser) rs117159093 0.00064
NM_006129.5(BMP1):c.2445C>T (p.Ala815=) rs200867122 0.00032
NM_006129.5(BMP1):c.*525G>T rs534157555 0.00028
NM_006129.5(BMP1):c.433+12A>G rs201334369 0.00028
NM_006129.5(BMP1):c.2075C>T (p.Ser692Phe) rs201303856 0.00027
NM_006129.5(BMP1):c.2847G>A (p.Ser949=) rs149176169 0.00026
NM_006129.5(BMP1):c.1927-13G>A rs371954727 0.00021
NM_006129.5(BMP1):c.*172A>C rs772766491 0.00019
NM_006129.5(BMP1):c.1044C>T (p.Cys348=) rs149174555 0.00019
NM_006129.5(BMP1):c.239G>A (p.Arg80His) rs73549580 0.00019
NM_006129.5(BMP1):c.*339T>C rs535713678 0.00018
NM_006129.5(BMP1):c.2446C>G (p.Pro816Ala) rs150161793 0.00018
NM_006129.5(BMP1):c.717G>A (p.Glu239=) rs149856199 0.00016
NM_006129.5(BMP1):c.2519G>A (p.Arg840His) rs145359380 0.00014
NM_006129.5(BMP1):c.1804A>G (p.Ile602Val) rs374534506 0.00012
NM_006129.5(BMP1):c.2455G>A (p.Gly819Ser) rs200936548 0.00009
NM_006129.5(BMP1):c.2730G>A (p.Glu910=) rs574472338 0.00007
NM_006129.5(BMP1):c.178G>A (p.Glu60Lys) rs886062818 0.00006
NM_006129.5(BMP1):c.*503G>A rs1405985128 0.00005
NM_006129.5(BMP1):c.226C>T (p.Arg76Trp) rs201377252 0.00005
NM_006129.5(BMP1):c.2437G>A (p.Ala813Thr) rs780689541 0.00005
NM_006129.5(BMP1):c.*325C>G rs886062823 0.00004
NM_006129.5(BMP1):c.1095G>A (p.Thr365=) rs370391413 0.00004
NM_006129.5(BMP1):c.1232G>A (p.Arg411His) rs184592914 0.00004
NM_006129.5(BMP1):c.2166C>T (p.Phe722=) rs149426277 0.00004
NM_006129.5(BMP1):c.2321C>T (p.Thr774Met) rs750695022 0.00004
NM_006129.5(BMP1):c.*208G>T rs868717468 0.00003
NM_006129.5(BMP1):c.2594G>A (p.Arg865Gln) rs142443043 0.00003
NM_006129.5(BMP1):c.2700C>T (p.Tyr900=) rs1264208772 0.00003
NM_006129.5(BMP1):c.402C>T (p.Val134=) rs773025752 0.00003
NM_006129.5(BMP1):c.*513A>G rs886062824 0.00002
NM_006129.5(BMP1):c.1250G>A (p.Arg417His) rs750136928 0.00002
NM_006129.5(BMP1):c.2751C>T (p.Cys917=) rs376975956 0.00002
NM_006129.5(BMP1):c.799G>A (p.Asp267Asn) rs764649614 0.00002
NM_006129.5(BMP1):c.928A>G (p.Ile310Val) rs570945262 0.00002
NM_006129.5(BMP1):c.*121C>G rs1430030743 0.00001
NM_006129.5(BMP1):c.1178G>A (p.Arg393Gln) rs772355766 0.00001
NM_006129.5(BMP1):c.1868C>T (p.Ala623Val) rs752330967 0.00001
NM_006129.5(BMP1):c.1938C>T (p.Tyr646=) rs763299873 0.00001
NM_006129.5(BMP1):c.2045G>A (p.Arg682His) rs199971581 0.00001
NM_006129.5(BMP1):c.2108-359T>C rs786205217 0.00001
NM_006129.5(BMP1):c.2575+12G>A rs763277589 0.00001
NM_006129.5(BMP1):c.2622C>T (p.Tyr874=) rs886062820 0.00001
NM_006129.5(BMP1):c.421G>A (p.Gly141Arg) rs762726234 0.00001
NM_006129.5(BMP1):c.455G>A (p.Arg152Gln) rs376680208 0.00001
NM_006129.5(BMP1):c.962-18C>G rs200412717 0.00001
NM_001199.4(BMP1):c.2191T>C (p.Ter731Arg) rs2131895772
NM_006129.4(BMP1):c.*601T>C rs1829476921
NM_006129.5(BMP1):c.*275G>A rs886062822
NM_006129.5(BMP1):c.*333G>A rs567556443
NM_006129.5(BMP1):c.1081A>T (p.Ile361Phe) rs1828947056
NM_006129.5(BMP1):c.1184G>T (p.Arg395Leu) rs375380551
NM_006129.5(BMP1):c.1215C>G (p.Ile405Met) rs1586459952
NM_006129.5(BMP1):c.1297G>T (p.Ala433Ser) rs786205220
NM_006129.5(BMP1):c.204A>G (p.Val68=) rs749485360
NM_006129.5(BMP1):c.2107G>C (p.Asp703His) rs786205218
NM_006129.5(BMP1):c.224G>C (p.Arg75Thr) rs2131844680
NM_006129.5(BMP1):c.2429G>A (p.Gly810Glu) rs886062819
NM_006129.5(BMP1):c.2430G>T (p.Gly810=) rs374092044
NM_006129.5(BMP1):c.2487C>A (p.Pro829=) rs367978759
NM_006129.5(BMP1):c.2487C>T (p.Pro829=) rs367978759
NM_006129.5(BMP1):c.2543A>G (p.Gln848Arg) rs1829384655
NM_006129.5(BMP1):c.2576-2A>C rs1368161403
NM_006129.5(BMP1):c.2724C>T (p.Thr908=) rs140092629
NM_006129.5(BMP1):c.2803C>T (p.Leu935=) rs886062821
NM_006129.5(BMP1):c.584del (p.Gly195fs)
NM_006129.5(BMP1):c.584dup (p.Gln197fs) rs1828459412
NM_006129.5(BMP1):c.747C>G (p.Phe249Leu) rs398122891
NM_006129.5(BMP1):c.808A>G (p.Met270Val) rs786205219
NM_006129.5(BMP1):c.820C>G (p.Arg274Gly)
NM_006129.5(BMP1):c.837-5T>C rs369882085
NM_006129.5(BMP1):c.916A>C (p.Ser306Arg) rs1357950133
NM_006129.5(BMP1):c.965G>A (p.Cys322Tyr) rs2131855526

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