ClinVar Miner

List of variants reported as pathogenic 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: 121
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
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_006371.5(CRTAP):c.471+2C>A rs137853943 0.00010
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_001159773.2(CANT1):c.676G>A (p.Val226Met) rs377546036 0.00004
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) rs77722678 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_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_002615.7(SERPINF1):c.295C>T (p.Arg99Ter) rs1085307634 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_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_000009.11:g.(?_108456805)_(108468035_108483817)del
NC_000012.11:g.(?_85673997)_(85695563_?)del
NM_000088.3(COL1A1):c.700dup rs2144584155
NM_000088.4(COL1A1):c.1128del (p.Gly377fs) rs72645370
NM_000088.4(COL1A1):c.1200+1G>A rs72648320
NM_000088.4(COL1A1):c.131_132del (p.Gly44fs)
NM_000088.4(COL1A1):c.162_168dup (p.Pro57fs)
NM_000088.4(COL1A1):c.2775del (p.Gly926fs) rs878853274
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.4237G>A (p.Asp1413Asn) rs72656349
NM_000088.4(COL1A1):c.615del (p.Gly206fs)
NM_000088.4(COL1A1):c.658del (p.Arg220fs)
NM_000088.4(COL1A1):c.752delG
NM_000088.4(COL1A1):c.760G>T (p.Gly254Ter)
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.2206G>T (p.Gly736Cys) rs72658173
NM_000089.4(COL1A2):c.2575G>A (p.Gly859Ser) rs72658200
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
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.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_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001025295.3(IFITM5):c.119C>T (p.Ser40Leu) rs786201032
NM_001039958.2(MESP2):c.83G>A (p.Trp28Ter)
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_001286577.2(C2CD3):c.1996C>T (p.Arg666Ter)
NM_001286577.2(C2CD3):c.994dup (p.Val332fs) rs750700691
NM_001384732.1(CPLANE1):c.5594dup (p.Asn1865fs) rs990257446
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser) rs886044555
NM_001844.5(COL2A1):c.2814del (p.Gly939fs) rs1555165494
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
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.1630-2del rs1057517989
NM_002615.7(SERPINF1):c.262GCCCTCTCG[3] (p.88ALS[3]) rs758551389
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.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.506dup (p.Cys170fs) rs779969402
NM_005450.6(NOG):c.461del (p.Phe154fs)
NM_006129.5(BMP1):c.584dup (p.Gln197fs) rs1828459412
NM_006371.5(CRTAP):c.198C>A (p.Tyr66Ter) rs137853939
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_016277.5(RAB23):c.467del (p.Leu156fs)
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_018060.4(IARS2):c.280dup (p.Ser94fs)
NM_018946.4(NANS):c.772G>T (p.Glu258Ter)
NM_020223.4(FAM20C):c.474del (p.Ser159fs)
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_032888.4(COL27A1):c.1895del (p.Asp632fs)
NM_052989.3(IFT122):c.3013C>T (p.Gln1005Ter)
NM_181486.4(TBX5):c.529del (p.His177fs)
NM_182943.3(PLOD2):c.1559dup (p.Val523fs) rs749709000
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.624dup (p.Cys209fs) rs781790231
NM_198239.2(CCN6):c.667T>G (p.Cys223Gly)
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs) rs786200899

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