ClinVar Miner

List of variants reported as uncertain significance for Osteogenesis imperfecta

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 350
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.*1011T>C rs1061970 0.12435
NM_000088.4(COL1A1):c.2452-23del rs146899953 0.00427
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_005430.4(WNT1):c.1007C>T (p.Thr336Met) rs148154047 0.00294
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_022167.4(XYLT2):c.2463C>T (p.Ser821=) rs147148985 0.00224
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_001235.5(SERPINH1):c.721+9T>C rs138193444 0.00158
NM_021939.4(FKBP10):c.1137G>A (p.Val379=) rs116142981 0.00150
NM_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser) rs140157299 0.00117
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu) rs146422412 0.00107
NM_182943.3(PLOD2):c.587C>T (p.Thr196Ile) rs148118826 0.00096
NM_006371.5(CRTAP):c.451C>G (p.Leu151Val) rs202118861 0.00070
NM_005430.4(WNT1):c.754G>C (p.Gly252Arg) rs200151492 0.00067
NM_002335.4(LRP5):c.291C>T (p.Ala97=) rs146667935 0.00061
NM_002615.7(SERPINF1):c.15G>T (p.Val5=) rs139841572 0.00061
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665 0.00061
NM_000088.4(COL1A1):c.3571C>G (p.Pro1191Ala) rs142570406 0.00059
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_182943.3(PLOD2):c.382A>G (p.Lys128Glu) rs200569129 0.00056
NM_000942.5(PPIB):c.-9C>G rs367616150 0.00050
NM_002335.4(LRP5):c.2046T>C (p.Phe682=) rs61740517 0.00050
NM_003118.4(SPARC):c.157G>A (p.Gly53Arg) rs146500464 0.00046
NM_000088.4(COL1A1):c.*981G>C rs574167621 0.00045
NM_021939.4(FKBP10):c.1290C>T (p.Leu430=) rs143450797 0.00044
NM_002335.4(LRP5):c.1585-9G>A rs202067798 0.00042
NM_000088.4(COL1A1):c.-66G>A rs565562045 0.00039
NM_000088.4(COL1A1):c.*1087C>T rs557843360 0.00036
NM_022356.4(P3H1):c.1838+9G>A rs374946028 0.00036
NM_000478.6(ALPL):c.1574del (p.Phe524_Ter525insTer) rs764994176 0.00035
NM_000088.4(COL1A1):c.*631G>A rs569577942 0.00033
NM_022356.4(P3H1):c.1660C>T (p.Arg554Cys) rs138860050 0.00033
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_001235.5(SERPINH1):c.481A>C (p.Ile161Leu) rs112083274 0.00027
NM_006129.5(BMP1):c.2075C>T (p.Ser692Phe) rs201303856 0.00027
NM_001173467.3(SP7):c.839G>T (p.Arg280Leu) rs200582631 0.00026
NM_006129.5(BMP1):c.2847G>A (p.Ser949=) rs149176169 0.00026
NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys) rs140079753 0.00025
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser) rs370608825 0.00024
NM_000089.4(COL1A2):c.639+19A>T rs183516726 0.00024
NM_002335.4(LRP5):c.1738G>A (p.Val580Ile) rs149524398 0.00024
NM_006129.5(BMP1):c.1623C>T (p.Ala541=) rs181639729 0.00024
NM_022167.4(XYLT2):c.1708G>A (p.Ala570Thr) rs199816555 0.00024
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg) rs372214186 0.00023
NM_022356.4(P3H1):c.1428C>T (p.Gly476=) rs141786883 0.00022
NM_022356.4(P3H1):c.1838+5G>T rs377368053 0.00022
NM_022356.4(P3H1):c.2155G>A (p.Glu719Lys) rs372407655 0.00022
NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp) rs80358317 0.00021
NM_018112.3(TMEM38B):c.662T>C (p.Ile221Thr) rs201882609 0.00020
NM_001173467.3(SP7):c.799C>T (p.Arg267Cys) rs201666834 0.00019
NM_006129.5(BMP1):c.239G>A (p.Arg80His) rs73549580 0.00019
NM_006129.5(BMP1):c.2446C>G (p.Pro816Ala) rs150161793 0.00018
NM_000088.4(COL1A1):c.*120T>C rs773014749 0.00017
NM_000089.3(COL1A2):c.-428G>A rs753974789 0.00016
NM_006129.5(BMP1):c.717G>A (p.Glu239=) rs149856199 0.00016
NM_022167.4(XYLT2):c.1998G>A (p.Leu666=) rs140443495 0.00016
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707 0.00014
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln) rs200864554 0.00014
NM_001025295.3(IFITM5):c.68C>T (p.Ala23Val) rs552104680 0.00014
NM_002335.4(LRP5):c.3793G>C (p.Ala1265Pro) rs201530801 0.00014
NM_182943.3(PLOD2):c.1128G>A (p.Met376Ile) rs202241126 0.00014
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=) rs776387246 0.00013
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_005430.4(WNT1):c.535C>T (p.Leu179Phe) rs377240313 0.00013
NM_022167.4(XYLT2):c.811G>A (p.Asp271Asn) rs138933160 0.00013
NM_000089.4(COL1A2):c.*545A>G rs761806166 0.00012
NM_006371.5(CRTAP):c.583G>A (p.Glu195Lys) rs201267683 0.00012
NM_018112.3(TMEM38B):c.300A>G (p.Leu100=) rs201768590 0.00012
NM_022167.4(XYLT2):c.1923C>T (p.Ser641=) rs778642140 0.00012
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu) rs202068380 0.00011
NM_000089.4(COL1A2):c.2782-19T>G rs193922164 0.00011
NM_000088.4(COL1A1):c.*502C>T rs1004356084 0.00010
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=) rs148362963 0.00010
NM_000089.4(COL1A2):c.486+15A>G rs193922171 0.00010
NM_000088.4(COL1A1):c.*342C>A rs1253268385 0.00009
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594 0.00009
NM_005430.4(WNT1):c.506G>A (p.Gly169Asp) rs371672410 0.00009
NM_022167.4(XYLT2):c.493G>A (p.Val165Met) rs201070818 0.00009
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) rs369699409 0.00008
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His) rs773985005 0.00008
NM_002335.4(LRP5):c.551G>A (p.Ser184Asn) rs142649952 0.00008
NM_018112.3(TMEM38B):c.526T>C (p.Trp176Arg) rs538936774 0.00008
NM_021939.4(FKBP10):c.677G>A (p.Arg226Lys) rs556997852 0.00008
NM_182943.3(PLOD2):c.475A>T (p.Ile159Phe) rs768122346 0.00008
NM_000088.4(COL1A1):c.768C>T (p.Pro256=) rs199891984 0.00007
NM_000089.4(COL1A2):c.*131G>T rs777448399 0.00007
NM_000089.4(COL1A2):c.1564C>T (p.Pro522Ser) rs199732595 0.00007
NM_001025295.3(IFITM5):c.-3C>T rs1362690516 0.00007
NM_001173467.3(SP7):c.855G>A (p.Ala285=) rs561083858 0.00007
NM_002335.4(LRP5):c.1192C>T (p.Arg398Cys) rs776512547 0.00007
NM_006129.5(BMP1):c.2730G>A (p.Glu910=) rs574472338 0.00007
NM_000088.4(COL1A1):c.*21G>C rs201085309 0.00006
NM_000088.4(COL1A1):c.1155+12C>T rs774034198 0.00006
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) rs375695940 0.00006
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246 0.00006
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473 0.00006
NM_000088.4(COL1A1):c.528C>T (p.Ser176=) rs748856187 0.00006
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu) rs763409550 0.00006
NM_000089.4(COL1A2):c.2826C>T (p.Pro942=) rs199580542 0.00006
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000089.4(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779 0.00006
NM_001235.5(SERPINH1):c.*4C>G rs550152153 0.00006
NM_002615.7(SERPINF1):c.439+7C>T rs766814533 0.00006
NM_006129.5(BMP1):c.1754G>A (p.Arg585His) rs370064009 0.00006
NM_021939.4(FKBP10):c.309C>T (p.Asp103=) rs199576301 0.00006
NM_182943.3(PLOD2):c.1732A>G (p.Ile578Val) rs558336915 0.00006
NM_000088.4(COL1A1):c.*1151C>T rs536196631 0.00005
NM_000088.4(COL1A1):c.*1205C>G rs551536386 0.00005
NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp) rs151256720 0.00005
NM_000089.4(COL1A2):c.3870C>T (p.Val1290=) rs926855674 0.00005
NM_000478.6(ALPL):c.910G>A (p.Val304Met) rs745704006 0.00005
NM_002335.4(LRP5):c.4791G>C (p.Glu1597Asp) rs142508112 0.00005
NM_006129.5(BMP1):c.226C>T (p.Arg76Trp) rs201377252 0.00005
NM_015884.4(MBTPS2):c.671-10C>G rs751755276 0.00005
NM_000088.4(COL1A1):c.*285C>A rs990020766 0.00004
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr) rs372029024 0.00004
NM_000088.4(COL1A1):c.3630C>T (p.His1210=) rs745320719 0.00004
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000088.4(COL1A1):c.401T>A (p.Ile134Asn) rs771647906 0.00004
NM_000088.4(COL1A1):c.408A>G (p.Gly136=) rs533127847 0.00004
NM_000089.4(COL1A2):c.1051G>A (p.Ala351Thr) rs755610740 0.00004
NM_000089.4(COL1A2):c.4048G>A (p.Gly1350Ser) rs193922170 0.00004
NM_000089.4(COL1A2):c.71-7T>C rs774842422 0.00004
NM_000478.6(ALPL):c.204G>A (p.Thr68=) rs537814225 0.00004
NM_001173467.3(SP7):c.1184G>A (p.Arg395His) rs369792296 0.00004
NM_002335.4(LRP5):c.*8C>T rs758348649 0.00004
NM_002335.4(LRP5):c.91+9G>C rs569517144 0.00004
NM_002615.7(SERPINF1):c.99C>T (p.Pro33=) rs150314171 0.00004
NM_003118.4(SPARC):c.751G>A (p.Glu251Lys) rs752377098 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_006371.5(CRTAP):c.168C>G (p.Ser56Arg) rs146112611 0.00004
NM_021939.4(FKBP10):c.917+5G>A rs782117189 0.00004
NM_021939.4(FKBP10):c.942T>C (p.Asn314=) rs376553350 0.00004
NM_022167.4(XYLT2):c.2312A>G (p.Asn771Ser) rs199705453 0.00004
NM_182943.3(PLOD2):c.1418G>A (p.Arg473Gln) rs533478450 0.00004
NM_000088.4(COL1A1):c.*682C>T rs77720683 0.00003
NM_000088.4(COL1A1):c.*733G>A rs886053148 0.00003
NM_000088.4(COL1A1):c.*795C>T rs886053147 0.00003
NM_000088.4(COL1A1):c.1888G>A (p.Glu630Lys) rs775106436 0.00003
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=) rs756297543 0.00003
NM_000089.4(COL1A2):c.*584A>T rs1469558350 0.00003
NM_000089.4(COL1A2):c.*601A>G rs1031022615 0.00003
NM_000089.4(COL1A2):c.1870C>G (p.Pro624Ala) rs886062517 0.00003
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His) rs200357942 0.00003
NM_002335.4(LRP5):c.1992C>T (p.Asn664=) rs760151423 0.00003
NM_005032.7(PLS3):c.1192C>T (p.Arg398Cys) rs377411857 0.00003
NM_006371.5(CRTAP):c.308A>G (p.Tyr103Cys) rs769117004 0.00003
NM_022167.4(XYLT2):c.1623C>T (p.Tyr541=) rs750349082 0.00003
NM_022167.4(XYLT2):c.2420C>T (p.Ala807Val) rs565634363 0.00003
NM_022167.4(XYLT2):c.859G>A (p.Val287Met) rs200767788 0.00003
NM_022356.4(P3H1):c.*5G>A rs994709040 0.00003
NM_022356.4(P3H1):c.1215G>A (p.Glu405=) rs527679322 0.00003
NM_000088.4(COL1A1):c.1675G>A (p.Ala559Thr) rs558173513 0.00002
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser) rs756337302 0.00002
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=) rs757759451 0.00002
NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn) rs754149044 0.00002
NM_000478.6(ALPL):c.677T>C (p.Met226Thr) rs752641050 0.00002
NM_000942.5(PPIB):c.284G>A (p.Arg95His) rs771584197 0.00002
NM_002335.4(LRP5):c.3427+7G>A rs756825499 0.00002
NM_006129.5(BMP1):c.1250G>A (p.Arg417His) rs750136928 0.00002
NM_006129.5(BMP1):c.928A>G (p.Ile310Val) rs570945262 0.00002
NM_006371.5(CRTAP):c.23C>T (p.Ala8Val) rs770294468 0.00002
NM_006371.5(CRTAP):c.282C>T (p.Pro94=) rs540998437 0.00002
NM_006371.5(CRTAP):c.702C>T (p.Pro234=) rs371017739 0.00002
NM_021939.4(FKBP10):c.402T>G (p.Ile134Met) rs367689167 0.00002
NM_022167.4(XYLT2):c.344C>T (p.Pro115Leu) rs748114111 0.00002
NM_022356.4(P3H1):c.2154C>T (p.Pro718=) rs775626323 0.00002
NM_000088.4(COL1A1):c.*194G>A rs886053158 0.00001
NM_000088.4(COL1A1):c.*837G>A rs564977858 0.00001
NM_000088.4(COL1A1):c.-115G>A rs886053164 0.00001
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe) rs72645362 0.00001
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) rs1051473344 0.00001
NM_000088.4(COL1A1):c.1669-10C>A rs886053162 0.00001
NM_000088.4(COL1A1):c.2235+4A>C rs1382593990 0.00001
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=) rs746453576 0.00001
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=) rs372044347 0.00001
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys) rs746671446 0.00001
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372 0.00001
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met) rs763025405 0.00001
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133 0.00001
NM_000088.4(COL1A1):c.979G>T (p.Ala327Ser) rs769106952 0.00001
NM_000089.3(COL1A2):c.-188C>T rs886062512 0.00001
NM_000089.4(COL1A2):c.*193C>T rs1025438678 0.00001
NM_000089.4(COL1A2):c.*465G>T rs937283468 0.00001
NM_000089.4(COL1A2):c.*814A>G rs1584334060 0.00001
NM_000089.4(COL1A2):c.1089C>T (p.Pro363=) rs748961276 0.00001
NM_000089.4(COL1A2):c.121C>T (p.Arg41Cys) rs769457034 0.00001
NM_000089.4(COL1A2):c.1611+9T>A rs200333208 0.00001
NM_000089.4(COL1A2):c.1686T>A (p.Gly562=) rs1394933873 0.00001
NM_000089.4(COL1A2):c.1971+5G>A rs375027186 0.00001
NM_000089.4(COL1A2):c.2781+13C>G rs193922163 0.00001
NM_000089.4(COL1A2):c.279+12T>C rs751199493 0.00001
NM_000089.4(COL1A2):c.2957C>T (p.Pro986Leu) rs768171831 0.00001
NM_000089.4(COL1A2):c.3741C>T (p.Ser1247=) rs1792349319 0.00001
NM_000089.4(COL1A2):c.384T>A (p.Pro128=) rs767043956 0.00001
NM_000089.4(COL1A2):c.3954T>C (p.Ser1318=) rs781599112 0.00001
NM_000089.4(COL1A2):c.693+12C>A rs767990110 0.00001
NM_000089.4(COL1A2):c.81+8A>C rs765118884 0.00001
NM_000478.6(ALPL):c.1100C>T (p.Ser367Phe) rs1300239598 0.00001
NM_000478.6(ALPL):c.1103C>T (p.Ser368Leu) rs368809478 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys) rs200621180 0.00001
NM_001235.5(SERPINH1):c.843T>C (p.Leu281=) rs544719966 0.00001
NM_002335.4(LRP5):c.1090G>A (p.Asp364Asn) rs771711120 0.00001
NM_002335.4(LRP5):c.1393G>A (p.Ala465Thr) rs755886863 0.00001
NM_002335.4(LRP5):c.2237G>A (p.Arg746Gln) rs766548006 0.00001
NM_002335.4(LRP5):c.2413C>T (p.Arg805Trp) rs765952535 0.00001
NM_002335.4(LRP5):c.3030C>G (p.Pro1010=) rs1334335601 0.00001
NM_002335.4(LRP5):c.3122C>T (p.Thr1041Met) rs1311935185 0.00001
NM_002335.4(LRP5):c.4227C>T (p.Arg1409=) rs536928726 0.00001
NM_002335.4(LRP5):c.4550A>G (p.Tyr1517Cys) rs201030241 0.00001
NM_002335.4(LRP5):c.4733C>T (p.Thr1578Met) rs974175023 0.00001
NM_002615.7(SERPINF1):c.156C>T (p.Asn52=) rs750677344 0.00001
NM_002615.7(SERPINF1):c.426C>T (p.Ile142=) rs747222233 0.00001
NM_002615.7(SERPINF1):c.609C>T (p.Ile203=) rs765207911 0.00001
NM_002615.7(SERPINF1):c.871G>A (p.Glu291Lys) rs1465650682 0.00001
NM_005430.4(WNT1):c.27C>T (p.Gly9=) rs772782141 0.00001
NM_005430.4(WNT1):c.689G>A (p.Arg230His) rs560459579 0.00001
NM_006371.5(CRTAP):c.1022A>G (p.His341Arg) rs781545232 0.00001
NM_006371.5(CRTAP):c.68C>T (p.Ala23Val) rs1401887028 0.00001
NM_021939.4(FKBP10):c.393G>A (p.Ala131=) rs573350587 0.00001
NM_021939.4(FKBP10):c.915C>T (p.Ser305=) rs781996509 0.00001
NM_022167.4(XYLT2):c.1328A>G (p.Glu443Gly) rs150726624 0.00001
NM_022167.4(XYLT2):c.2583_2584insTCA (p.Asp861_Gly862insSer) rs1160371350 0.00001
NM_022167.4(XYLT2):c.38G>T (p.Arg13Leu) rs1192218990 0.00001
NM_022356.4(P3H1):c.368G>C (p.Cys123Ser) rs1310667421 0.00001
NM_022356.4(P3H1):c.440A>G (p.Asn147Ser) rs1653008220 0.00001
NM_182943.3(PLOD2):c.1450C>T (p.Arg484Cys) rs774012315 0.00001
NM_182943.3(PLOD2):c.898A>G (p.Ile300Val) rs757119517 0.00001
NM_000088.4(COL1A1):c.*1027G>T rs200882287
NM_000088.4(COL1A1):c.*1316C>G rs967567610
NM_000088.4(COL1A1):c.*1324A>G rs886053140
NM_000088.4(COL1A1):c.*356T>A rs1906365029
NM_000088.4(COL1A1):c.*437A>C rs886053150
NM_000088.4(COL1A1):c.*623G>A rs886053149
NM_000088.4(COL1A1):c.*73C>A rs1906402899
NM_000088.4(COL1A1):c.*815A>G rs886053146
NM_000088.4(COL1A1):c.-98G>C rs574683904
NM_000088.4(COL1A1):c.1296C>G (p.Asn432Lys) rs2144575369
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=) rs762086114
NM_000088.4(COL1A1):c.1910C>G (p.Ala637Gly) rs886053161
NM_000088.4(COL1A1):c.1984-1G>T rs2144561474
NM_000088.4(COL1A1):c.1984-6C>G rs373873548
NM_000088.4(COL1A1):c.2127G>A (p.Lys709=) rs2144559989
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala) rs1423591325
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.4(COL1A1):c.2539G>T (p.Ala847Ser) rs369455732
NM_000088.4(COL1A1):c.2560-5T>C rs2144552369
NM_000088.4(COL1A1):c.2643C>G (p.Gly881=) rs1414204760
NM_000088.4(COL1A1):c.299-23_299-2del rs2144592610
NM_000088.4(COL1A1):c.3003C>A (p.Gly1001=) rs747313038
NM_000088.4(COL1A1):c.3099+7T>G rs201682029
NM_000088.4(COL1A1):c.4006-9C>T rs193922156
NM_000088.4(COL1A1):c.404C>G (p.Pro135Arg) rs2144591229
NM_000088.4(COL1A1):c.4081G>A (p.Glu1361Lys) rs141011435
NM_000088.4(COL1A1):c.4092G>A (p.Gln1364=) rs886053160
NM_000088.4(COL1A1):c.4140G>C (p.Gln1380His) rs886053159
NM_000088.4(COL1A1):c.588+1G>A rs72667025
NM_000088.4(COL1A1):c.804+15A>C rs148110802
NM_000088.4(COL1A1):c.957+15C>T rs779096006
NM_000089.3(COL1A2):c.-150G>C rs1584310114
NM_000089.3(COL1A2):c.-152G>A rs769123288
NM_000089.3(COL1A2):c.-194C>T rs1180929889
NM_000089.3(COL1A2):c.-204T>G rs908653050
NM_000089.3(COL1A2):c.-264C>A rs182924222
NM_000089.3(COL1A2):c.-365A>G rs886062511
NM_000089.3(COL1A2):c.-397A>T rs1791544304
NM_000089.3(COL1A2):c.-418G>A rs939882798
NM_000089.4(COL1A2):c.*329A>G rs1235561698
NM_000089.4(COL1A2):c.*469A>G rs1792387263
NM_000089.4(COL1A2):c.*561T>C rs1792389230
NM_000089.4(COL1A2):c.*618T>C rs557107553
NM_000089.4(COL1A2):c.*638C>T rs1792391514
NM_000089.4(COL1A2):c.-87C>T rs886062513
NM_000089.4(COL1A2):c.1036-14G>T rs114322680
NM_000089.4(COL1A2):c.114A>G (p.Arg38=) rs1462108134
NM_000089.4(COL1A2):c.1186C>T (p.Pro396Ser) rs886062515
NM_000089.4(COL1A2):c.1475T>C (p.Ile492Thr) rs761529493
NM_000089.4(COL1A2):c.1557+5G>T rs193922161
NM_000089.4(COL1A2):c.2187+14A>G rs1792135004
NM_000089.4(COL1A2):c.223G>T (p.Gly75Trp) rs2115860730
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser) rs150179964
NM_000089.4(COL1A2):c.2894C>G (p.Pro965Arg) rs1437648908
NM_000089.4(COL1A2):c.3106-11T>C rs1792292305
NM_000089.4(COL1A2):c.3211C>A (p.Pro1071Thr) rs886062518
NM_000089.4(COL1A2):c.3270C>G (p.Gly1090=) rs548761767
NM_000089.4(COL1A2):c.3699T>C (p.Asn1233=) rs1792333529
NM_000089.4(COL1A2):c.3809A>G (p.Tyr1270Cys) rs886062519
NM_000089.4(COL1A2):c.3898C>T (p.Leu1300Phe) rs1725653924
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile) rs886062514
NM_000089.4(COL1A2):c.693+6T>G rs2115888140
NM_000089.4(COL1A2):c.71-6C>T rs201076141
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala) rs1584318648
NM_000089.4(COL1A2):c.81+11del rs193922174
NM_000089.4(COL1A2):c.866G>C (p.Gly289Ala) rs67031201
NM_000478.6(ALPL):c.1232C>T (p.Thr411Ile) rs2148192417
NM_000942.5(PPIB):c.-8G>C rs757856817
NM_000942.5(PPIB):c.300C>A (p.Phe100Leu) rs1420928651
NM_000942.5(PPIB):c.399_401dup (p.Gly134dup) rs886039912
NM_000942.5(PPIB):c.640G>T (p.Ala214Ser) rs759753798
NM_001173467.3(SP7):c.184G>T (p.Asp62Tyr) rs2136836404
NM_001173467.3(SP7):c.500G>A (p.Trp167Ter) rs1294471020
NM_001173467.3(SP7):c.675C>T (p.Pro225=) rs1250981237
NM_001235.5(SERPINH1):c.370C>T (p.Arg124Cys) rs1942088242
NM_002335.4(LRP5):c.1360G>A (p.Val454Met) rs373910016
NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp) rs121908665
NM_002335.4(LRP5):c.3204G>A (p.Lys1068=) rs2153173106
NM_002335.4(LRP5):c.34CTG[7] (p.Leu19_Leu20del) rs72555376
NM_002335.4(LRP5):c.4043G>A (p.Cys1348Tyr) rs149275252
NM_002335.4(LRP5):c.4230G>A (p.Val1410=) rs752100031
NM_002335.4(LRP5):c.4236C>T (p.Cys1412=) rs750573655
NM_002335.4(LRP5):c.533G>T (p.Arg178Leu) rs183377804
NM_002615.7(SERPINF1):c.-9+6G>A rs2151202480
NM_002615.7(SERPINF1):c.397C>A (p.Gln133Lys) rs138610575
NM_002615.7(SERPINF1):c.620T>G (p.Leu207Arg) rs967535162
NM_002615.7(SERPINF1):c.702_704del (p.Asp234del) rs754286883
NM_005032.7(PLS3):c.188A>G (p.Asp63Gly) rs987712053
NM_005032.7(PLS3):c.892G>A (p.Asp298Asn) rs202076515
NM_005032.7(PLS3):c.89G>A (p.Gly30Glu) rs2074663738
NM_005430.4(WNT1):c.23C>T (p.Pro8Leu) rs1219729580
NM_005430.4(WNT1):c.625-5C>T rs1207715560
NM_005430.4(WNT1):c.937C>A (p.Arg313Ser) rs1162097828
NM_005430.4(WNT1):c.989G>A (p.Cys330Tyr) rs1565722031
NM_006129.5(BMP1):c.1416C>T (p.His472=) rs148614326
NM_006129.5(BMP1):c.224G>C (p.Arg75Thr) rs2131844680
NM_006129.5(BMP1):c.2487C>T (p.Pro829=) rs367978759
NM_006129.5(BMP1):c.2724C>T (p.Thr908=) rs140092629
NM_006129.5(BMP1):c.49C>T (p.Pro17Ser) rs1362079805
NM_006371.5(CRTAP):c.16C>A (p.Arg6=) rs1701306755
NM_006371.5(CRTAP):c.257G>C (p.Arg86Pro) rs2125595979
NM_006371.5(CRTAP):c.60G>T (p.Ala20=) rs1393255225
NM_018112.3(TMEM38B):c.390C>A (p.Val130=) rs376335301
NM_021939.4(FKBP10):c.1256+17del rs55720039
NM_021939.4(FKBP10):c.246-5C>G rs140027863
NM_021939.4(FKBP10):c.829C>G (p.Pro277Ala) rs138089753
NM_022167.4(XYLT2):c.1581C>A (p.Pro527=) rs377456488
NM_022167.4(XYLT2):c.1985T>C (p.Phe662Ser) rs762379910
NM_022167.4(XYLT2):c.239G>T (p.Arg80Leu) rs371420967
NM_022167.4(XYLT2):c.2585_2586insTAGCAGGCGACTCAG (p.Gly862_Arg863insSerArgArgLeuArg) rs1567809273
NM_022167.4(XYLT2):c.914G>T (p.Arg305Met) rs12451299
NM_022356.4(P3H1):c.1223+9C>T rs768165212
NM_022356.4(P3H1):c.1931A>C (p.Gln644Pro) rs2124077511
NM_022356.4(P3H1):c.2001G>C (p.Gly667=) rs2124076813
NM_182943.3(PLOD2):c.153A>G (p.Gly51=) rs1397987910
NM_182943.3(PLOD2):c.306T>A (p.Asp102Glu) rs764056697

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