ClinVar Miner

List of variants reported as uncertain significance for Connective tissue disorder

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ClinVar version:
Total variants: 447
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HGVS dbSNP gnomAD frequency
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691 0.00426
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) rs72866991 0.00243
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647 0.00233
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448 0.00217
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr) rs149629209 0.00148
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_001457.4(FLNB):c.420G>A (p.Thr140=) rs192491895 0.00134
NM_001457.4(FLNB):c.3169A>C (p.Lys1057Gln) rs13321615 0.00133
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918 0.00133
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg) rs199821354 0.00124
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395 0.00119
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00107
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser) rs34761938 0.00103
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly) rs371597026 0.00102
NM_005529.7(HSPG2):c.745G>A (p.Val249Met) rs148066529 0.00101
NM_001457.4(FLNB):c.1697G>A (p.Arg566Gln) rs150747960 0.00098
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) rs139401633 0.00096
NM_004836.7(EIF2AK3):c.1264G>A (p.Ala422Thr) rs145427892 0.00096
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636 0.00096
NM_015139.3(SLC35D1):c.301C>T (p.Leu101Phe) rs145382776 0.00091
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_000316.3(PTH1R):c.1710C>T (p.Gly570=) rs112382430 0.00086
NM_000071.3(CBS):c.1257G>A (p.Leu419=) rs138432416 0.00083
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_001844.5(COL2A1):c.969+6T>C rs139163410 0.00081
NM_001199397.3(NEK1):c.2940G>A (p.Ser980=) rs56252746 0.00080
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) rs150314450 0.00079
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser) rs137904249 0.00079
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_000047.3(ARSL):c.23+5G>C rs200062390 0.00068
NM_001127671.2(LIFR):c.247A>G (p.Ile83Val) rs61751710 0.00068
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00067
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_025132.4(WDR19):c.1030C>G (p.His344Asp) rs76599296 0.00063
NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His) rs147458427 0.00062
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) rs148414587 0.00061
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_000288.4(PEX7):c.128C>T (p.Ala43Val) rs780369944 0.00052
NM_005529.7(HSPG2):c.1557G>A (p.Leu519=) rs149710901 0.00051
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) rs141259390 0.00050
NM_001457.4(FLNB):c.4978G>A (p.Ala1660Thr) rs142114129 0.00047
NM_001457.4(FLNB):c.4495G>A (p.Asp1499Asn) rs150445941 0.00046
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg) rs145673747 0.00043
NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg) rs145091234 0.00043
NM_002296.4(LBR):c.312C>T (p.Ala104=) rs146953852 0.00041
NM_002381.5(MATN3):c.330C>T (p.Ile110=) rs201755444 0.00039
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374 0.00036
NM_005529.7(HSPG2):c.5206G>A (p.Val1736Ile) rs200506675 0.00036
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His) rs139846706 0.00034
NM_015922.3(NSDHL):c.649G>A (p.Glu217Lys) rs138492835 0.00034
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_001457.4(FLNB):c.4061+4G>A rs370061963 0.00032
NM_001013693.3(LDLRAD2):c.*1278C>T rs376645617 0.00031
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val) rs754643779 0.00031
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513 0.00029
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_001127671.2(LIFR):c.46G>A (p.Asp16Asn) rs61751713 0.00029
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143 0.00026
NM_001102564.3(IFT43):c.201C>T (p.Ser67=) rs140127543 0.00026
NM_001199397.3(NEK1):c.3583+8A>C rs192372022 0.00026
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766 0.00025
NM_004239.4(TRIP11):c.5900A>G (p.Asn1967Ser) rs113605039 0.00024
NM_005529.7(HSPG2):c.11920G>A (p.Gly3974Arg) rs370471445 0.00024
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_004239.4(TRIP11):c.950A>T (p.Asp317Val) rs140416653 0.00023
NM_001457.4(FLNB):c.3052G>A (p.Val1018Met) rs2276742 0.00022
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_001457.4(FLNB):c.3583G>A (p.Val1195Met) rs200993986 0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_005529.7(HSPG2):c.11970G>A (p.Glu3990=) rs140509598 0.00021
NM_001102564.3(IFT43):c.296-5602T>C rs141114765 0.00020
NM_000071.3(CBS):c.397G>A (p.Asp133Asn) rs539326697 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_001102564.3(IFT43):c.16G>C (p.Asp6His) rs201966792 0.00019
NM_002296.4(LBR):c.561C>T (p.Tyr187=) rs151100686 0.00019
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln) rs143706338 0.00019
NM_002381.5(MATN3):c.671G>A (p.Arg224Gln) rs201491595 0.00018
NM_000095.3(COMP):c.382G>A (p.Val128Ile) rs143954978 0.00016
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp) rs200554477 0.00015
NM_002296.4(LBR):c.1315-8C>T rs369094974 0.00015
NM_001457.4(FLNB):c.864C>T (p.Asp288=) rs141151998 0.00014
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile) rs140313460 0.00014
NM_002381.5(MATN3):c.513C>T (p.Asp171=) rs571353547 0.00014
NM_020800.3(IFT80):c.807T>C (p.Thr269=) rs372419950 0.00014
NM_000071.3(CBS):c.1539C>T (p.His513=) rs187828882 0.00013
NM_000138.5(FBN1):c.6054C>T (p.Val2018=) rs542953863 0.00013
NM_001127671.2(LIFR):c.2671-10T>G rs201596849 0.00013
NM_001852.4(COL9A2):c.1761C>T (p.Ala587=) rs370130857 0.00013
NM_015139.3(SLC35D1):c.98C>T (p.Ser33Leu) rs34458186 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala) rs35222922 0.00012
NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val) rs756500246 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=) rs150556863 0.00011
NM_001457.4(FLNB):c.3476C>T (p.Ser1159Leu) rs201254275 0.00011
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu) rs199653123 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe) rs199602365 0.00011
NM_021625.5(TRPV4):c.1311G>C (p.Leu437=) rs148225182 0.00011
NM_025132.4(WDR19):c.1249+9A>G rs201377206 0.00011
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=) rs576332528 0.00010
NM_000089.4(COL1A2):c.395G>A (p.Arg132His) rs372678526 0.00009
NM_000112.4(SLC26A2):c.1487G>A (p.Arg496His) rs150314895 0.00009
NM_001457.4(FLNB):c.7794T>C (p.His2598=) rs140318342 0.00009
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702 0.00008
NM_001189.4(NKX3-2):c.179C>T (p.Ala60Val) rs536700699 0.00008
NM_002296.4(LBR):c.991C>T (p.Leu331Phe) rs201609720 0.00008
NM_004239.4(TRIP11):c.2016T>A (p.Ala672=) rs144317897 0.00008
NM_005529.7(HSPG2):c.3651C>T (p.Ala1217=) rs371519713 0.00008
NM_005529.7(HSPG2):c.9616G>A (p.Ala3206Thr) rs773860532 0.00008
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser) rs772687020 0.00008
NM_053025.4(MYLK):c.5369-10T>G rs373584324 0.00008
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp) rs200635355 0.00008
NM_000089.4(COL1A2):c.1036-3T>C rs370275593 0.00007
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629 0.00007
NM_000095.3(COMP):c.11A>C (p.Asp4Ala) rs370458957 0.00007
NM_000142.5(FGFR3):c.1068G>A (p.Val356=) rs201947443 0.00007
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059 0.00007
NM_001851.6(COL9A1):c.1946G>C (p.Gly649Ala) rs201480339 0.00007
NM_001852.4(COL9A2):c.1061C>T (p.Pro354Leu) rs201772619 0.00007
NM_001854.4(COL11A1):c.*9C>G rs371551881 0.00007
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467 0.00007
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_052989.3(IFT122):c.2315T>A (p.Ile772Asn) rs371325633 0.00007
NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser) rs747029402 0.00007
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met) rs374878685 0.00006
NM_000346.4(SOX9):c.1092G>A (p.Ala364=) rs754417848 0.00006
NM_001127671.2(LIFR):c.465A>G (p.Leu155=) rs368371692 0.00006
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu) rs542593908 0.00006
NM_001128225.3(SLC39A13):c.786+8C>T rs572017658 0.00006
NM_001189.4(NKX3-2):c.261C>G (p.Ser87Arg) rs756642619 0.00006
NM_001199397.3(NEK1):c.2474G>T (p.Gly825Val) rs377203539 0.00006
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser) rs199726428 0.00006
NM_001851.6(COL9A1):c.1611G>A (p.Thr537=) rs529005717 0.00006
NM_001999.4(FBN2):c.2115C>G (p.Thr705=) rs763844538 0.00006
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544 0.00006
NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val) rs373358736 0.00006
NM_005529.7(HSPG2):c.9717C>T (p.Pro3239=) rs375006314 0.00006
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764 0.00006
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111 0.00006
NM_052989.3(IFT122):c.3127C>A (p.Arg1043Ser) rs555281580 0.00006
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser) rs139000120 0.00006
NM_053025.4(MYLK):c.5435C>T (p.Ser1812Phe) rs1007504430 0.00006
NM_053025.4(MYLK):c.774-15C>G rs371552521 0.00006
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) rs750472969 0.00005
NM_000393.5(COL5A2):c.3201+14C>T rs368713290 0.00005
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met) rs150506063 0.00005
NM_002296.4(LBR):c.1324T>C (p.Leu442=) rs61749338 0.00005
NM_005529.7(HSPG2):c.13147G>A (p.Gly4383Arg) rs554059442 0.00005
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) rs377026877 0.00005
NM_006579.3(EBP):c.59A>C (p.Asn20Thr) rs144359050 0.00005
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys) rs368359145 0.00004
NM_000089.4(COL1A2):c.286A>G (p.Met96Val) rs763509640 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000316.3(PTH1R):c.1353+8G>T rs201749357 0.00004
NM_000478.6(ALPL):c.1070G>A (p.Arg357Gln) rs202022405 0.00004
NM_001127671.2(LIFR):c.2462C>G (p.Pro821Arg) rs139248720 0.00004
NM_001199397.3(NEK1):c.2977C>G (p.Pro993Ala) rs745888585 0.00004
NM_001353214.3(DYM):c.543T>G (p.Val181=) rs759683937 0.00004
NM_001852.4(COL9A2):c.1068G>A (p.Pro356=) rs752181922 0.00004
NM_001854.4(COL11A1):c.2916+3A>G rs200515572 0.00004
NM_001999.4(FBN2):c.377G>A (p.Arg126His) rs528614556 0.00004
NM_002317.7(LOX):c.1222T>C (p.Tyr408His) rs765126342 0.00004
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn) rs549820613 0.00004
NM_004239.4(TRIP11):c.5368G>C (p.Gly1790Arg) rs751740362 0.00004
NM_004836.7(EIF2AK3):c.1651-4T>C rs750573955 0.00004
NM_005529.7(HSPG2):c.11904C>T (p.Phe3968=) rs759194108 0.00004
NM_005529.7(HSPG2):c.4868+4G>A rs200689461 0.00004
NM_006182.4(DDR2):c.418G>T (p.Val140Leu) rs756623313 0.00004
NM_017617.5(NOTCH1):c.865+10C>T rs760702631 0.00004
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu) rs200199102 0.00004
NM_024753.5(TTC21B):c.1768A>G (p.Met590Val) rs777733112 0.00004
NM_052989.3(IFT122):c.2988-6C>T rs749670705 0.00004
NM_052989.3(IFT122):c.3343G>T (p.Val1115Leu) rs557159295 0.00004
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) rs767877538 0.00004
NM_000047.3(ARSL):c.280C>T (p.Leu94Phe) rs141210068 0.00003
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) rs747189975 0.00003
NM_000142.5(FGFR3):c.2265G>A (p.Thr755=) rs755791719 0.00003
NM_001127671.2(LIFR):c.2010C>T (p.Cys670=) rs755322616 0.00003
NM_001127671.2(LIFR):c.3078G>A (p.Ala1026=) rs760083976 0.00003
NM_001127671.2(LIFR):c.3086G>A (p.Arg1029Lys) rs1012911330 0.00003
NM_001199397.3(NEK1):c.426A>G (p.Val142=) rs200769726 0.00003
NM_001367624.2(ZNF469):c.4224G>A (p.Pro1408=) rs940044560 0.00003
NM_001457.4(FLNB):c.1953C>T (p.Tyr651=) rs754981255 0.00003
NM_001844.5(COL2A1):c.580G>A (p.Ala194Thr) rs371445823 0.00003
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys) rs141304474 0.00003
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635 0.00003
NM_002474.3(MYH11):c.2924C>T (p.Thr975Met) rs763795192 0.00003
NM_004239.4(TRIP11):c.975A>G (p.Ala325=) rs143126491 0.00003
NM_005529.7(HSPG2):c.3445A>T (p.Ser1149Cys) rs751653012 0.00003
NM_005529.7(HSPG2):c.7030C>T (p.Arg2344Cys) rs752260236 0.00003
NM_005529.7(HSPG2):c.8152G>A (p.Gly2718Ser) rs778350928 0.00003
NM_017617.5(NOTCH1):c.2266G>A (p.Glu756Lys) rs1271941628 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_052989.3(IFT122):c.732C>T (p.Asp244=) rs202074599 0.00003
NM_000088.4(COL1A1):c.1062A>T (p.Glu354Asp) rs778733293 0.00002
NM_000095.3(COMP):c.217+4A>G rs779140776 0.00002
NM_000138.5(FBN1):c.1220G>A (p.Gly407Asp) rs758241018 0.00002
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His) rs137854456 0.00002
NM_000142.5(FGFR3):c.1645+8C>T rs372987620 0.00002
NM_000393.5(COL5A2):c.1717-3C>T rs760304144 0.00002
NM_001127671.2(LIFR):c.2695G>A (p.Glu899Lys) rs915137068 0.00002
NM_001128225.3(SLC39A13):c.584G>A (p.Gly195Asp) rs750069673 0.00002
NM_001199397.3(NEK1):c.2020G>C (p.Gly674Arg) rs773244347 0.00002
NM_001457.4(FLNB):c.2098A>C (p.Met700Leu) rs762991925 0.00002
NM_001852.4(COL9A2):c.1782G>A (p.Thr594=) rs745727857 0.00002
NM_001854.4(COL11A1):c.1350+11G>A rs747505977 0.00002
NM_001854.4(COL11A1):c.4300A>G (p.Met1434Val) rs772950506 0.00002
NM_001854.4(COL11A1):c.4876C>T (p.Pro1626Ser) rs377036654 0.00002
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val) rs748419325 0.00002
NM_001999.4(FBN2):c.2178C>T (p.Ser726=) rs573282381 0.00002
NM_003243.5(TGFBR3):c.2027T>C (p.Phe676Ser) rs147485470 0.00002
NM_004239.4(TRIP11):c.2155G>A (p.Gly719Arg) rs759108605 0.00002
NM_005529.7(HSPG2):c.2226C>T (p.Cys742=) rs900156643 0.00002
NM_005529.7(HSPG2):c.3414+5G>A rs764695599 0.00002
NM_005529.7(HSPG2):c.6307C>T (p.Arg2103Trp) rs755167311 0.00002
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638 0.00002
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys) rs372583866 0.00002
NM_024753.5(TTC21B):c.3856A>G (p.Ile1286Val) rs768117655 0.00002
NM_080680.3(COL11A2):c.3540C>T (p.Gly1180=) rs759890035 0.00002
NM_080680.3(COL11A2):c.4751-9A>G rs555680585 0.00002
NM_000047.3(ARSL):c.1419A>G (p.Thr473=) rs755373707 0.00001
NM_000047.3(ARSL):c.1629G>A (p.Gln543=) rs753971115 0.00001
NM_000089.4(COL1A2):c.1198-12A>G rs1292046736 0.00001
NM_000089.4(COL1A2):c.1318C>T (p.Arg440Cys) rs754825427 0.00001
NM_000090.4(COL3A1):c.3526-10C>T rs376171095 0.00001
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079 0.00001
NM_000095.3(COMP):c.1331C>G (p.Ser444Cys) rs747106682 0.00001
NM_000112.4(SLC26A2):c.1085G>T (p.Gly362Val) rs1215069127 0.00001
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu) rs771134832 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser) rs780624885 0.00001
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) rs761187818 0.00001
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) rs770443276 0.00001
NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser) rs759494825 0.00001
NM_000142.5(FGFR3):c.1075+8C>T rs779181976 0.00001
NM_000142.5(FGFR3):c.1524G>A (p.Lys508=) rs756833829 0.00001
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210 0.00001
NM_000316.3(PTH1R):c.595C>T (p.Leu199=) rs1336354545 0.00001
NM_000346.4(SOX9):c.916G>T (p.Val306Leu) rs779386878 0.00001
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys) rs730880066 0.00001
NM_000393.5(COL5A2):c.2308G>T (p.Ala770Ser) rs1244308550 0.00001
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) rs752658223 0.00001
NM_001110556.2(FLNA):c.4843C>T (p.Arg1615Cys) rs1557177091 0.00001
NM_001127671.2(LIFR):c.1984T>C (p.Cys662Arg) rs1358104388 0.00001
NM_001199397.3(NEK1):c.1335T>C (p.His445=) rs776957816 0.00001
NM_001457.4(FLNB):c.1486G>T (p.Gly496Cys) rs747825411 0.00001
NM_001457.4(FLNB):c.282C>T (p.Leu94=) rs745493076 0.00001
NM_001457.4(FLNB):c.3176C>T (p.Ala1059Val) rs570950728 0.00001
NM_001457.4(FLNB):c.4736C>T (p.Thr1579Ile) rs2097315257 0.00001
NM_001457.4(FLNB):c.5784C>T (p.Leu1928=) rs866717445 0.00001
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly) rs779757924 0.00001
NM_001844.5(COL2A1):c.2091C>G (p.Pro697=) rs762603514 0.00001
NM_001844.5(COL2A1):c.2156G>A (p.Arg719His) rs535980544 0.00001
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=) rs925297712 0.00001
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu) rs371268468 0.00001
NM_001844.5(COL2A1):c.3598-5T>C rs1441411760 0.00001
NM_001851.6(COL9A1):c.1939A>C (p.Ser647Arg) rs200194450 0.00001
NM_001851.6(COL9A1):c.2333C>T (p.Ala778Val) rs767229176 0.00001
NM_001854.4(COL11A1):c.1056G>A (p.Arg352=) rs762727530 0.00001
NM_001854.4(COL11A1):c.2537C>T (p.Pro846Leu) rs1308067070 0.00001
NM_001854.4(COL11A1):c.2610+9T>C rs754222130 0.00001
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His) rs368422725 0.00001
NM_001854.4(COL11A1):c.2990G>A (p.Gly997Asp) rs772357889 0.00001
NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr) rs748315186 0.00001
NM_001999.4(FBN2):c.2149C>T (p.Arg717Cys) rs766945762 0.00001
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005 0.00001
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn) rs187786356 0.00001
NM_001999.4(FBN2):c.513T>G (p.Ile171Met) rs1756603412 0.00001
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser) rs760065931 0.00001
NM_002296.4(LBR):c.1366C>G (p.Leu456Val) rs377110126 0.00001
NM_002296.4(LBR):c.908T>A (p.Ile303Asn) rs1165682529 0.00001
NM_002474.3(MYH11):c.5483A>T (p.Glu1828Val) rs1365841164 0.00001
NM_004239.4(TRIP11):c.948A>C (p.Lys316Asn) rs766465446 0.00001
NM_005529.7(HSPG2):c.12363C>T (p.Pro4121=) rs761632172 0.00001
NM_005529.7(HSPG2):c.1355+5G>A rs781394836 0.00001
NM_005529.7(HSPG2):c.1534C>T (p.Leu512=) rs758125762 0.00001
NM_005529.7(HSPG2):c.5423G>A (p.Arg1808His) rs561392976 0.00001
NM_005529.7(HSPG2):c.6706G>A (p.Glu2236Lys) rs762159760 0.00001
NM_005529.7(HSPG2):c.6802G>A (p.Val2268Met) rs1459395398 0.00001
NM_005529.7(HSPG2):c.8317-7T>C rs773039564 0.00001
NM_006258.4(PRKG1):c.314C>T (p.Ser105Phe) rs1368918637 0.00001
NM_006579.3(EBP):c.483G>A (p.Gly161=) rs782627994 0.00001
NM_015139.3(SLC35D1):c.392+7A>G rs778524919 0.00001
NM_015139.3(SLC35D1):c.930G>A (p.Thr310=) rs1314283727 0.00001
NM_015922.3(NSDHL):c.979A>G (p.Met327Val) rs1485303029 0.00001
NM_020779.4(WDR35):c.2593G>A (p.Val865Met) rs1032877870 0.00001
NM_020800.3(IFT80):c.13A>C (p.Ile5Leu) rs184680258 0.00001
NM_021625.5(TRPV4):c.105C>T (p.Ser35=) rs1167497327 0.00001
NM_021625.5(TRPV4):c.2142C>T (p.Leu714=) rs751939888 0.00001
NM_021625.5(TRPV4):c.300G>A (p.Lys100=) rs370135765 0.00001
NM_024753.5(TTC21B):c.3702T>C (p.Tyr1234=) rs376746146 0.00001
NM_024753.5(TTC21B):c.946G>T (p.Ala316Ser) rs1366178129 0.00001
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln) rs764512369 0.00001
NM_052989.3(IFT122):c.616A>G (p.Ile206Val) rs777023612 0.00001
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu) rs774553050 0.00001
NM_053025.4(MYLK):c.4620-5C>T rs760680632 0.00001
NM_080680.3(COL11A2):c.1181G>A (p.Gly394Asp) rs1554221958 0.00001
NM_000071.3(CBS):c.1114G>A (p.Val372Ile) rs775354680
NM_000088.4(COL1A1):c.1387G>A (p.Ala463Thr) rs1555573895
NM_000088.4(COL1A1):c.1456G>A (p.Glu486Lys) rs1171968124
NM_000088.4(COL1A1):c.361G>T (p.Gly121Cys) rs904057644
NM_000088.4(COL1A1):c.3778C>T (p.Arg1260Cys) rs1555571800
NM_000089.4(COL1A2):c.3181C>A (p.Pro1061Thr) rs1554398544
NM_000089.4(COL1A2):c.3710A>G (p.Gln1237Arg) rs1554398713
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile) rs886062514
NM_000089.4(COL1A2):c.779C>T (p.Ala260Val) rs1554395967
NM_000090.4(COL3A1):c.1194+5G>C rs1688245023
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1924-8C>A rs1553508534
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_000093.5(COL5A1):c.2802C>T (p.Gly934=) rs1554801686
NM_000093.5(COL5A1):c.401G>A (p.Arg134His) rs1442400098
NM_000093.5(COL5A1):c.4954+6G>C rs1031138847
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000095.3(COMP):c.1521C>A (p.Asp507Glu) rs2145900494
NM_000095.3(COMP):c.1581G>A (p.Thr527=) rs1190598083
NM_000112.4(SLC26A2):c.1442G>C (p.Ser481Thr) rs1755089465
NM_000112.4(SLC26A2):c.1443T>C (p.Ser481=) rs1054014161
NM_000112.4(SLC26A2):c.395T>C (p.Leu132Pro) rs1755026324
NM_000138.5(FBN1):c.1700G>A (p.Gly567Glu) rs768489747
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.224C>G (p.Pro75Arg) rs1555405654
NM_000142.5(FGFR3):c.1182G>T (p.Thr394=) rs771495510
NM_000142.5(FGFR3):c.1199G>T (p.Ser400Ile) rs2108797719
NM_000142.5(FGFR3):c.811G>A (p.Val271Met) rs1445397378
NM_000288.4(PEX7):c.236A>G (p.Asn79Ser) rs2115131862
NM_000316.3(PTH1R):c.1393G>A (p.Glu465Lys) rs1683106396
NM_000316.3(PTH1R):c.830G>T (p.Gly277Val) rs757961321
NM_000316.3(PTH1R):c.834+14_834+46del rs768888196
NM_000346.4(SOX9):c.1095_1115del (p.364AAPPQQP[1]) rs765759003
NM_000346.4(SOX9):c.320G>A (p.Arg107Gln) rs2143239870
NM_000346.4(SOX9):c.432-3C>A rs1033320617
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg) rs149203102
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn) rs754751410
NM_000451.4(SHOX):c.-55C>T rs772910213
NM_001011658.4(TRAPPC2):c.-161-2A>C rs2146894247
NM_001102564.3(IFT43):c.143G>A (p.Gly48Glu) rs780644030
NM_001110556.2(FLNA):c.1066-15C>A rs1557179297
NM_001127671.2(LIFR):c.1265C>T (p.Thr422Ile) rs2112471039
NM_001127671.2(LIFR):c.148C>T (p.Pro50Ser) rs1475409463
NM_001127671.2(LIFR):c.1547T>C (p.Phe516Ser) rs766255111
NM_001127671.2(LIFR):c.1960A>G (p.Thr654Ala) rs2112417469
NM_001127671.2(LIFR):c.47A>G (p.Asp16Gly) rs2112571297
NM_001128225.3(SLC39A13):c.786+7G>C rs375548129
NM_001189.4(NKX3-2):c.544G>A (p.Gly182Ser) rs772588647
NM_001199397.3(NEK1):c.118-10C>T rs1330006018
NM_001199397.3(NEK1):c.1628A>G (p.Glu543Gly) rs2149814328
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys) rs745526568
NM_001353214.3(DYM):c.2170G>A (p.Asp724Asn) rs780336634
NM_001457.4(FLNB):c.1327G>A (p.Val443Ile) rs200902568
NM_001457.4(FLNB):c.3008C>T (p.Thr1003Met) rs1178934749
NM_001457.4(FLNB):c.4620T>C (p.Phe1540=) rs2107220411
NM_001457.4(FLNB):c.5379C>T (p.Val1793=) rs2097330797
NM_001844.5(COL2A1):c.2236C>T (p.Pro746Ser) rs1179925303
NM_001844.5(COL2A1):c.2819G>C (p.Arg940Pro) rs533540496
NM_001844.5(COL2A1):c.2892C>T (p.Pro964=) rs769500366
NM_001844.5(COL2A1):c.3914G>C (p.Gly1305Ala) rs121912887
NM_001851.6(COL9A1):c.1143+4A>T rs1224302280
NM_001852.4(COL9A2):c.1691_1692insA (p.Gly565fs) rs1643933460
NM_001852.4(COL9A2):c.1696T>C (p.Tyr566His) rs1643933432
NM_001852.4(COL9A2):c.1701A>T (p.Pro567=) rs1643933277
NM_001853.4(COL9A3):c.275G>C (p.Gly92Ala) rs1991064282
NM_001853.4(COL9A3):c.337G>C (p.Gly113Arg) rs574865366
NM_001853.4(COL9A3):c.422C>G (p.Pro141Arg) rs141879928
NM_001854.4(COL11A1):c.1570C>G (p.Arg524Gly) rs771139447
NM_001854.4(COL11A1):c.2480C>T (p.Pro827Leu) rs1252968708
NM_001854.4(COL11A1):c.328G>A (p.Gly110Arg) rs141978499
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met) rs957177447
NM_001999.4(FBN2):c.3163G>A (p.Gly1055Arg) rs1372203787
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser) rs2126903780
NM_001999.4(FBN2):c.3520T>C (p.Cys1174Arg) rs1554123060
NM_001999.4(FBN2):c.4249C>T (p.His1417Tyr) rs863223572
NM_001999.4(FBN2):c.4589G>A (p.Cys1530Tyr) rs2126854530
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg) rs772569905
NM_001999.4(FBN2):c.8364+7A>G rs185052980
NM_002296.4(LBR):c.1561G>T (p.Ala521Ser) rs372250618
NM_002296.4(LBR):c.218C>G (p.Ser73Cys) rs773644529
NM_002296.4(LBR):c.629G>T (p.Gly210Val) rs565288775
NM_002381.5(MATN3):c.526G>T (p.Val176Leu) rs200762092
NM_002381.5(MATN3):c.575T>A (p.Ile192Asn) rs2103483989
NM_002381.5(MATN3):c.962G>C (p.Cys321Ser) rs753326503
NM_002474.3(MYH11):c.5078A>G (p.Gln1693Arg) rs1555551464
NM_002546.4(TNFRSF11B):c.605G>A (p.Cys202Tyr) rs2129882318
NM_003480.4(MFAP5):c.81T>G (p.Asn27Lys) rs1555140533
NM_004239.4(TRIP11):c.5221G>A (p.Asp1741Asn) rs2140097408
NM_004836.7(EIF2AK3):c.1887-9C>G rs2104414509
NM_005430.4(WNT1):c.726G>A (p.Val242=) rs1324762785
NM_005529.7(HSPG2):c.12361C>G (p.Pro4121Ala) rs1316660217
NM_005529.7(HSPG2):c.12532+4C>T rs762689360
NM_005529.7(HSPG2):c.1371C>T (p.Ser457=) rs770532300
NM_005529.7(HSPG2):c.8301C>T (p.Leu2767=) rs2152711496
NM_005529.7(HSPG2):c.8787C>T (p.Ile2929=) rs765768172
NM_006182.4(DDR2):c.2454C>G (p.Ala818=) rs1236758438
NM_006258.4(PRKG1):c.298C>T (p.Pro100Ser) rs1554833919
NM_006258.4(PRKG1):c.389T>C (p.Ile130Thr) rs771121101
NM_017617.5(NOTCH1):c.5260G>A (p.Val1754Met) rs1554727492
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=) rs1268405497
NM_020779.4(WDR35):c.1255+5G>A rs1034087679
NM_020779.4(WDR35):c.1833C>G (p.Asn611Lys) rs1671026684
NM_020779.4(WDR35):c.2409A>G (p.Gln803=) rs140630290
NM_020779.4(WDR35):c.658G>A (p.Val220Met) rs746602378
NM_020800.3(IFT80):c.546G>A (p.Leu182=) rs543233802
NM_020800.3(IFT80):c.550-4A>T rs769891425
NM_020800.3(IFT80):c.670A>T (p.Asn224Tyr) rs2108360263
NM_021625.5(TRPV4):c.1570TTC[2] (p.Phe526del) rs1393630996
NM_021625.5(TRPV4):c.2421T>G (p.Tyr807Ter) rs2136417346
NM_024753.5(TTC21B):c.2431G>T (p.Val811Phe) rs2105318208
NM_025132.4(WDR19):c.1354T>C (p.Leu452=) rs2109329940
NM_025132.4(WDR19):c.2932A>G (p.Lys978Glu) rs2109440327
NM_025132.4(WDR19):c.685C>G (p.Gln229Glu) rs1727822959
NM_052989.3(IFT122):c.2596A>G (p.Met866Val) rs2081968039
NM_052989.3(IFT122):c.2803_2805del (p.Lys935del) rs746556063
NM_052989.3(IFT122):c.3051C>T (p.His1017=) rs538635135
NM_052989.3(IFT122):c.536T>G (p.Ile179Arg) rs769527595
NM_053025.4(MYLK):c.2838C>G (p.His946Gln) rs1200981327
NM_053025.4(MYLK):c.2863T>A (p.Ser955Thr) rs756451726
NM_053025.4(MYLK):c.3626C>G (p.Ser1209Cys) rs1406608470
NM_080680.3(COL11A2):c.1570C>T (p.Pro524Ser) rs2150579159
NM_080680.3(COL11A2):c.2627G>T (p.Arg876Met) rs745859259
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu) rs142890313

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