ClinVar Miner

List of variants studied for bone development disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 232
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.642+25T>C rs73987448 0.05218
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000088.4(COL1A1):c.2452-23del rs146899953 0.00427
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446 0.00054
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_001395891.1(CLASP1):c.196-605C>T rs188343279 0.00038
NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg) rs140950220 0.00033
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His) rs193922150 0.00011
NM_004793.4(LONP1):c.2282C>T (p.Pro761Leu) rs373182816 0.00010
NM_006371.5(CRTAP):c.471+2C>A rs137853943 0.00010
NM_005430.4(WNT1):c.506G>A (p.Gly169Asp) rs371672410 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_000112.4(SLC26A2):c.700-1G>C rs200963884 0.00005
NM_000089.4(COL1A2):c.4048G>A (p.Gly1350Ser) rs193922170 0.00004
NM_001159773.2(CANT1):c.676G>A (p.Val226Met) rs377546036 0.00004
NR_023343.3(RNU4ATAC):n.124G>A rs544312701 0.00004
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu) rs104893917 0.00003
NM_000396.4(CTSK):c.934C>G (p.Arg312Gly) rs375958814 0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916 0.00002
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) rs77722678 0.00002
NM_000942.5(PPIB):c.313G>A (p.Gly105Arg) rs137853866 0.00002
NM_000942.5(PPIB):c.556_559del (p.Lys186fs) rs137853869 0.00002
NM_014239.4(EIF2B2):c.818A>G (p.Lys273Arg) rs113994016 0.00002
NM_000088.4(COL1A1):c.1354-12G>A rs72648337 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys) rs121908078 0.00001
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val) rs769319202 0.00001
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) rs371277428 0.00001
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg) rs74315302 0.00001
NM_000451.4(SHOX):c.583C>T (p.Arg195Ter) rs137852552 0.00001
NM_000942.5(PPIB):c.509G>A (p.Gly170Asp) rs199606428 0.00001
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898 0.00001
NM_002615.7(SERPINF1):c.295C>T (p.Arg99Ter) rs1085307634 0.00001
NM_002615.7(SERPINF1):c.998-1G>A rs772728968 0.00001
NM_006031.6(PCNT):c.307C>T (p.Gln103Ter) rs1290073918 0.00001
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg) rs318240762 0.00001
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter) rs1049674573 0.00001
NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys) rs397514674 0.00001
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln) rs387906960 0.00001
NM_198239.2(CCN6):c.589G>C (p.Ala197Pro) rs1554313639 0.00001
NC_000003.11:g.(33175758_33183886)_(33189266_?)del
NC_000003.11:g.(?_33155449)_(33166072_33171430)del
NC_000009.11:g.(108484903_108510353)_(108538893_?)del
NC_000009.11:g.(?_108456805)_(108468035_108483817)del
NC_000012.11:g.(?_85673997)_(85695563_?)del
NC_000017.10:g.(1665408_1670196)_(1675370_1678351)del
NC_000019.9:g.(11315008_11319361)_(11326604_11327589)del
NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del
NM_000088.3(COL1A1):c.700dup rs2144584155
NM_000088.4(COL1A1):c.1021G>T (p.Gly341Cys) rs193922137
NM_000088.4(COL1A1):c.1128del (p.Gly377fs) rs72645370
NM_000088.4(COL1A1):c.1200+1G>A rs72648320
NM_000088.4(COL1A1):c.1235C>G (p.Pro412Arg) rs193922138
NM_000088.4(COL1A1):c.1299+5G>A rs193922139
NM_000088.4(COL1A1):c.131_132del (p.Gly44fs)
NM_000088.4(COL1A1):c.1544G>C (p.Gly515Ala) rs193922140
NM_000088.4(COL1A1):c.162_168dup (p.Pro57fs)
NM_000088.4(COL1A1):c.1657del (p.Thr553fs) rs193922141
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser) rs1907330109
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter) rs193922144
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter) rs193922145
NM_000088.4(COL1A1):c.2398-1G>C rs193922147
NM_000088.4(COL1A1):c.2418del (p.Gly809fs) rs193922148
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000088.4(COL1A1):c.2450del (p.Pro817fs) rs193922149
NM_000088.4(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.4(COL1A1):c.2775del (p.Gly926fs) rs878853274
NM_000088.4(COL1A1):c.2829+2T>A
NM_000088.4(COL1A1):c.2897A>G (p.Gln966Arg) rs193922152
NM_000088.4(COL1A1):c.2901_2902del (p.Gly968fs) rs1555572406
NM_000088.4(COL1A1):c.299_300delAG rs193922154
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.334-9A>G rs1567764387
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.4(COL1A1):c.370-2A>G rs193922155
NM_000088.4(COL1A1):c.4237G>A (p.Asp1413Asn) rs72656349
NM_000088.4(COL1A1):c.517G>T (p.Gly173Ter) rs193922157
NM_000088.4(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.4(COL1A1):c.608G>C (p.Gly203Ala)
NM_000088.4(COL1A1):c.615del (p.Gly206fs)
NM_000088.4(COL1A1):c.658del (p.Arg220fs)
NM_000088.4(COL1A1):c.751-2A>G rs193922158
NM_000088.4(COL1A1):c.752delG
NM_000088.4(COL1A1):c.760G>T (p.Gly254Ter)
NM_000088.4(COL1A1):c.805G>A (p.Gly269Ser) rs72645328
NM_000088.4(COL1A1):c.862G>T (p.Glu288Ter) rs72645341
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000089.4(COL1A2):c.1557+5G>T rs193922161
NM_000089.4(COL1A2):c.1604G>T (p.Gly535Val)
NM_000089.4(COL1A2):c.1828G>A (p.Gly610Ser)
NM_000089.4(COL1A2):c.1873G>A (p.Gly625Ser) rs193922162
NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp) rs72658154
NM_000089.4(COL1A2):c.1999G>T (p.Gly667Cys) rs1554397369
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys) rs72658173
NM_000089.4(COL1A2):c.2575G>A (p.Gly859Ser) rs72658200
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000089.4(COL1A2):c.3106-2del rs193922166
NM_000089.4(COL1A2):c.3284del (p.Pro1095fs) rs193922167
NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro) rs193922168
NM_000089.4(COL1A2):c.3435G>A (p.Gln1145=) rs193922169
NM_000089.4(COL1A2):c.594+118del rs193922172
NM_000089.4(COL1A2):c.594+1G>A
NM_000089.4(COL1A2):c.677G>A (p.Gly226Asp) rs193922173
NM_000089.4(COL1A2):c.845GTG[1] (p.Gly283del) rs193922175
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000112.4(SLC26A2):c.1034T>A (p.Leu345Ter)
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs) rs780990131
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) rs1554095397
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000346.4(SOX9):c.1498C>T (p.Gln500Ter)
NM_000396.4(CTSK):c.236G>A (p.Gly79Glu) rs74315305
NM_000396.4(CTSK):c.26T>C (p.Leu9Pro) rs1057517252
NM_000396.4(CTSK):c.3G>A (p.Met1Ile) rs778368118
NM_000396.4(CTSK):c.505G>A (p.Asp169Asn) rs2101951545
NM_000396.4(CTSK):c.908G>A (p.Gly303Glu)
NM_000451.4(SHOX):c.352_353del (p.Arg118fs) rs1569493663
NM_000451.4(SHOX):c.454C>T (p.Gln152Ter)
NM_000451.4(SHOX):c.517C>T (p.Arg173Cys) rs137852556
NM_000451.4(SHOX):c.518G>A (p.Arg173His) rs746801054
NM_000451.4(SHOX):c.728del (p.Pro243fs) rs757845999
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln) rs397514668
NM_000942.5(PPIB):c.26T>A (p.Met9Lys)
NM_000942.5(PPIB):c.528+1G>C rs1228817029
NM_001024630.4(RUNX2):c.90del (p.Ser31fs) rs397515538
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001025295.3(IFITM5):c.119C>T (p.Ser40Leu) rs786201032
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter) rs1555439013
NM_001039958.2(MESP2):c.83G>A (p.Trp28Ter)
NM_001127671.2(LIFR):c.254del (p.Asn85fs) rs886041545
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter) rs1745753552
NM_001159773.2(CANT1):c.467C>T (p.Ser156Phe)
NM_001199.4(BMP1):c.2188dup (p.Gln730fs)
NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter)
NM_001271938.2(MEGF8):c.7005+1G>T rs1224632697
NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter)
NM_001286577.2(C2CD3):c.1996C>T (p.Arg666Ter)
NM_001286577.2(C2CD3):c.2969_2972delinsGGTTTACA (p.Ser990fs)
NM_001286577.2(C2CD3):c.2_9del (p.Met1fs)
NM_001286577.2(C2CD3):c.3345-1G>A
NM_001286577.2(C2CD3):c.994dup (p.Val332fs) rs750700691
NM_001384732.1(CPLANE1):c.5594dup (p.Asn1865fs) rs990257446
NM_001429.4(EP300):c.598C>T (p.Arg200Ter) rs769721953
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu) rs868417981
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser) rs886044555
NM_001844.5(COL2A1):c.1680+2T>G rs1565681966
NM_001844.5(COL2A1):c.2814del (p.Gly939fs) rs1555165494
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del) rs2136526614
NM_001844.5(COL2A1):c.292+2T>A
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.3887-2A>G rs2136508967
NM_001844.5(COL2A1):c.491dup (p.Gly165fs) rs1592235241
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876
NM_001852.4(COL9A2):c.1506del (p.Asn503fs) rs1040081238
NM_001854.4(COL11A1):c.1245+1G>T
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_002335.4(LRP5):c.1067C>T (p.Ser356Leu) rs1158745675
NM_002427.4(MMP13):c.74del (p.Gly25fs) rs748468302
NM_002615.7(SERPINF1):c.262GCCCTCTCG[3] (p.88ALS[3]) rs758551389
NM_002615.7(SERPINF1):c.397dup (p.Gln133fs)
NM_002615.7(SERPINF1):c.787-617G>A rs2151212328
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_004380.3(CREBBP):c.3099_3102del (p.Glu1034fs)
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.5197T>G (p.Tyr1733Asp)
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter) rs587783509
NM_004608.4(TBX6):c.990del (p.Glu332fs)
NM_004836.7(EIF2AK3):c.1897C>T (p.Arg633Trp)
NM_004991.4(MECOM):c.2592_2598del (p.Asp864fs)
NM_005430.4(WNT1):c.397G>A (p.Ala133Thr)
NM_005430.4(WNT1):c.505G>T (p.Gly169Cys)
NM_005430.4(WNT1):c.506dup (p.Cys170fs) rs779969402
NM_005450.6(NOG):c.461del (p.Phe154fs)
NM_005529.7(HSPG2):c.12900-2A>G
NM_006031.6(PCNT):c.9393+1G>A
NM_006129.5(BMP1):c.584del (p.Gly195fs)
NM_006129.5(BMP1):c.584dup (p.Gln197fs) rs1828459412
NM_006371.5(CRTAP):c.198C>A (p.Tyr66Ter) rs137853939
NM_006371.5(CRTAP):c.3G>A (p.Met1Ile) rs72659357
NM_006371.5(CRTAP):c.41_59dup (p.Leu21fs)
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_013432.5(TONSL):c.2623C>T (p.Arg875Ter) rs568942029
NM_014140.4(SMARCAL1):c.1940A>C (p.Lys647Thr) rs2106055226
NM_014762.4(DHCR24):c.1204C>T (p.Gln402Ter) rs2101555526
NM_014762.4(DHCR24):c.1412A>C (p.Tyr471Ser) rs28939092
NM_016277.5(RAB23):c.467del (p.Leu156fs)
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_017617.5(NOTCH1):c.5402C>G (p.Ser1801Ter)
NM_018060.4(IARS2):c.280dup (p.Ser94fs)
NM_018112.3(TMEM38B):c.532A>T (p.Lys178Ter)
NM_018946.4(NANS):c.772G>T (p.Glu258Ter)
NM_020223.4(FAM20C):c.474del (p.Ser159fs)
NM_020812.4(DOCK6):c.3180del (p.Cys1061fs)
NM_020812.4(DOCK6):c.4650+1_4650+3del rs1280482569
NM_021939.4(FKBP10):c.1256+1G>A
NM_021939.4(FKBP10):c.743dup (p.Gln249fs) rs1555616552
NM_021939.4(FKBP10):c.877_879del (p.Tyr293del) rs869320752
NM_022166.4(XYLT1):c.1108C>T (p.Gln370Ter)
NM_022356.4(P3H1):c.1980dup (p.Val661fs) rs1570453963
NM_022356.4(P3H1):c.232C>T (p.Gln78Ter) rs1330779100
NM_023935.3(DDRGK1):c.391C>T (p.Arg131Ter)
NM_031263.4(HNRNPK):c.66_95del (p.Pro23_Ala32del)
NM_032888.4(COL27A1):c.1895del (p.Asp632fs)
NM_032888.4(COL27A1):c.2367G>A (p.Pro789=) rs1830319943
NM_052989.3(IFT122):c.3013C>T (p.Gln1005Ter)
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter) rs1555226581
NM_181486.4(TBX5):c.529del (p.His177fs)
NM_182943.3(PLOD2):c.1559dup (p.Val523fs) rs749709000
NM_182943.3(PLOD2):c.1958C>G (p.Pro653Arg)
NM_182943.3(PLOD2):c.8dup (p.Cys4fs) rs1353563172
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) rs781986930
NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr) rs1562595388
NM_198239.2(CCN6):c.296_298delinsTTA (p.Tyr99_Cys100delinsPheSer)
NM_198239.2(CCN6):c.40_44del (p.Leu14fs)
NM_198239.2(CCN6):c.624dup (p.Cys209fs) rs781790231
NM_198239.2(CCN6):c.667T>G (p.Cys223Gly)
NM_198239.2(CCN6):c.737T>C (p.Leu246Pro)
NM_198239.2(CCN6):c.897C>A (p.Cys299Ter)
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs) rs786200899

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