ClinVar Miner

List of variants in gene COMP studied for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_000095.3(COMP):c.2267A>G (p.Gln756Arg) rs61752496 0.06295
NM_000095.3(COMP):c.*1G>C rs77185131 0.06291
NM_000095.3(COMP):c.1755G>A (p.Thr585=) rs34467947 0.04927
NM_000095.3(COMP):c.1156A>G (p.Asn386Asp) rs61739916 0.03133
NM_000095.3(COMP):c.511G>A (p.Ala171Thr) rs115338183 0.01840
NM_000095.3(COMP):c.1956C>T (p.Asn652=) rs10421797 0.00834
NM_000095.3(COMP):c.762+12C>A rs199733531 0.00463
NM_000095.3(COMP):c.*92G>A rs9407 0.00384
NM_000095.3(COMP):c.2227+8G>A rs116499541 0.00363
NM_000095.3(COMP):c.218-15C>A rs542886784 0.00199
NM_000095.2(COMP):c.*155G>C rs537572167 0.00130
NM_000095.3(COMP):c.*15A>G rs201937857 0.00126
NM_000095.3(COMP):c.-9G>T rs186562511 0.00123
NM_000095.3(COMP):c.279C>A (p.Pro93=) rs139319996 0.00093
NM_000095.3(COMP):c.2152C>A (p.Arg718=) rs28936368 0.00081
NM_000095.3(COMP):c.218-7C>G rs554031979 0.00051
NM_000095.3(COMP):c.360C>T (p.Gly120=) rs150820366 0.00044
NM_000095.3(COMP):c.700C>T (p.Pro234Ser) rs557483957 0.00024
NM_000095.3(COMP):c.868-4C>T rs529806631 0.00019
NM_000095.3(COMP):c.410T>C (p.Phe137Ser) rs757094319 0.00017
NM_000095.3(COMP):c.468G>T (p.Pro156=) rs202241721 0.00017
NM_000095.3(COMP):c.-15C>T rs374273743 0.00010
NM_000095.3(COMP):c.1894G>A (p.Glu632Lys) rs144170209 0.00010
NM_000095.3(COMP):c.2213G>A (p.Arg738His) rs766913050 0.00009
NM_000095.3(COMP):c.11A>C (p.Asp4Ala) rs370458957 0.00007
NM_000095.3(COMP):c.1979C>G (p.Thr660Arg) rs150534218 0.00007
NM_000095.3(COMP):c.924C>T (p.Ile308=) rs199596155 0.00007
NM_000095.3(COMP):c.87C>T (p.Asp29=) rs759794906 0.00006
NM_000095.3(COMP):c.1803T>C (p.Phe601=) rs753120962 0.00004
NM_000095.3(COMP):c.763-6C>G rs886054303 0.00004
NM_000095.3(COMP):c.968A>G (p.Asn323Ser) rs367812050 0.00004
NM_000095.3(COMP):c.1200C>T (p.Gly400=) rs201063220 0.00003
NM_000095.3(COMP):c.1590C>A (p.Asp530Glu) rs759687021 0.00003
NM_000095.3(COMP):c.566A>G (p.His189Arg) rs199792797 0.00003
NM_000095.3(COMP):c.643G>C (p.Gly215Arg) rs768437153 0.00003
NM_000095.3(COMP):c.867+11G>A rs776412620 0.00003
NM_000095.3(COMP):c.217+15G>A rs1439169186 0.00001
NM_000095.3(COMP):c.235C>A (p.Arg79Ser) rs768907479 0.00001
NM_000095.3(COMP):c.314C>A (p.Thr105Lys) rs1377001812 0.00001
NM_000095.3(COMP):c.377C>T (p.Thr126Ile) rs886054305 0.00001
NM_000095.3(COMP):c.500G>A (p.Gly167Glu) rs763887855 0.00001
NM_000095.3(COMP):c.588G>A (p.Val196=) rs201165293 0.00001
NM_000095.3(COMP):c.850G>A (p.Glu284Lys) rs145895692 0.00001
NM_000095.3(COMP):c.*111A>G rs886054301
NM_000095.3(COMP):c.1042T>C (p.Cys348Arg) rs137852656
NM_000095.3(COMP):c.1045G>C (p.Asp349His)
NM_000095.3(COMP):c.1051T>C (p.Cys351Arg) rs2145902239
NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del) rs2145902176
NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del) rs1198060288
NM_000095.3(COMP):c.1126G>A (p.Asp376Asn) rs1555791556
NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr) rs1555791556
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) rs1601054715
NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr) rs1601054715
NM_000095.3(COMP):c.1156_1158del (p.Asn386del) rs397515510
NM_000095.3(COMP):c.1201G>C (p.Asp401His) rs2055169002
NM_000095.3(COMP):c.1201G>T (p.Asp401Tyr) rs2055169002
NM_000095.3(COMP):c.1210G>A (p.Gly404Arg) rs2055168912
NM_000095.3(COMP):c.1228T>G (p.Cys410Gly) rs2145901302
NM_000095.3(COMP):c.1265A>C (p.Asp422Ala) rs1568554988
NM_000095.3(COMP):c.1285_1286dup (p.Cys430fs)
NM_000095.3(COMP):c.1309G>A (p.Asp437Asn) rs2055165476
NM_000095.3(COMP):c.1309G>C (p.Asp437His) rs2055165476
NM_000095.3(COMP):c.1309G>T (p.Asp437Tyr) rs2055165476
NM_000095.3(COMP):c.1315G>A (p.Asp439Asn) rs1601054002
NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr) rs1601054002
NM_000095.3(COMP):c.1316A>G (p.Asp439Gly)
NM_000095.3(COMP):c.1317C>G (p.Asp439Glu) rs368273443
NM_000095.3(COMP):c.1367A>C (p.Gln456Pro) rs2145900873
NM_000095.3(COMP):c.1368GGA[1] (p.Glu457del) rs1601053887
NM_000095.3(COMP):c.1375_1377del (p.Ser459del) rs2145900868
NM_000095.3(COMP):c.1394G>T (p.Gly465Val) rs2145900849
NM_000095.3(COMP):c.1403G>A (p.Cys468Tyr) rs137852651
NM_000095.3(COMP):c.1403G>C (p.Cys468Ser) rs137852651
NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del) rs193922900
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup) rs193922900
NM_000095.3(COMP):c.1405GAC[7] (p.Asp472_Asp473dup)
NM_000095.3(COMP):c.1406A>T (p.Asp469Val) rs766950514
NM_000095.3(COMP):c.1414G>T (p.Asp472Tyr) rs137852650
NM_000095.3(COMP):c.1416_1421del (p.Asn474_Asp475del) rs2055164523
NM_000095.3(COMP):c.1417G>C (p.Asp473His)
NM_000095.3(COMP):c.1418A>G (p.Asp473Gly) rs28936669
NM_000095.3(COMP):c.1445A>T (p.Asp482Val) rs2055164276
NM_000095.3(COMP):c.1454G>A (p.Arg485His) rs2055164177
NM_000095.3(COMP):c.1489+2T>A rs1131692038
NM_000095.3(COMP):c.1501G>A (p.Gly501Ser) rs2145900523
NM_000095.3(COMP):c.1521C>G (p.Asp507Glu) rs2145900494
NM_000095.3(COMP):c.1545C>A (p.Asp515Glu)
NM_000095.3(COMP):c.1552G>C (p.Asp518His) rs1359984033
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys) rs137852654
NM_000095.3(COMP):c.1586C>T (p.Thr529Ile) rs312262903
NM_000095.3(COMP):c.1621C>G (p.Pro541Ala) rs1451255197
NM_000095.3(COMP):c.165+9C>A rs886054306
NM_000095.3(COMP):c.1665C>A (p.Asn555Lys) rs397515511
NM_000095.3(COMP):c.1665C>G (p.Asn555Lys)
NM_000095.3(COMP):c.1668+13T>A rs74432818
NM_000095.3(COMP):c.1668+13T>G rs74432818
NM_000095.3(COMP):c.1747G>A (p.Glu583Lys) rs312262899
NM_000095.3(COMP):c.1754C>A (p.Thr585Lys) rs312262900
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg) rs312262900
NM_000095.3(COMP):c.1754C>T (p.Thr585Met) rs312262900
NM_000095.3(COMP):c.1760A>G (p.His587Arg) rs312262901
NM_000095.3(COMP):c.1813G>A (p.Asp605Asn) rs397515512
NM_000095.3(COMP):c.1836C>G (p.Val612=) rs886054302
NM_000095.3(COMP):c.195G>A (p.Thr65=) rs529891904
NM_000095.3(COMP):c.1993C>A (p.Arg665=) rs370202476
NM_000095.3(COMP):c.2042C>G (p.Ser681Cys) rs397515513
NM_000095.3(COMP):c.2048G>A (p.Arg683His) rs565459602
NM_000095.3(COMP):c.2092C>T (p.Arg698Ter) rs763098832
NM_000095.3(COMP):c.2150T>G (p.Met717Arg) rs1601049483
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) rs28936368
NM_000095.3(COMP):c.2153G>C (p.Arg718Pro) rs149551600
NM_000095.3(COMP):c.2155G>A (p.Gly719Ser) rs312262904
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp) rs137852655
NM_000095.3(COMP):c.2170dup (p.Val724fs) rs2145897697
NM_000095.3(COMP):c.218-13C>A rs1225414726
NM_000095.3(COMP):c.218-14C>A rs150008764
NM_000095.3(COMP):c.218-14C>G rs150008764
NM_000095.3(COMP):c.218-14C>T rs150008764
NM_000095.3(COMP):c.218-6C>G rs534407430
NM_000095.3(COMP):c.2223dup (p.Asn742fs) rs869320730
NM_000095.3(COMP):c.314C>T (p.Thr105Met) rs1377001812
NM_000095.3(COMP):c.327G>T (p.Ala109=) rs2055200293
NM_000095.3(COMP):c.345C>G (p.Pro115=) rs2055200093
NM_000095.3(COMP):c.381C>T (p.Asp127=) rs2055199653
NM_000095.3(COMP):c.582C>G (p.Asn194Lys) rs1352615165
NM_000095.3(COMP):c.595A>G (p.Asn199Asp) rs2145903787
NM_000095.3(COMP):c.620G>A (p.Gly207Asp) rs886054304
NM_000095.3(COMP):c.69G>A (p.Gln23=) rs886054307
NM_000095.3(COMP):c.763T>C (p.Cys255Arg) rs1601057570
NM_000095.3(COMP):c.805G>A (p.Asp269Asn) rs2145903436
NM_000095.3(COMP):c.811G>T (p.Asp271Tyr) rs1131691835
NM_000095.3(COMP):c.818A>G (p.Asp273Gly)
NM_000095.3(COMP):c.818A>T (p.Asp273Val) rs1601057491
NM_000095.3(COMP):c.862C>A (p.Arg288Ser) rs762455276
NM_000095.3(COMP):c.868G>T (p.Asp290Tyr) rs2145903266
NM_000095.3(COMP):c.874T>C (p.Cys292Arg) rs2055184939
NM_000095.3(COMP):c.886C>T (p.Pro296Ser) rs749583854
NM_000095.3(COMP):c.887C>G (p.Pro296Arg) rs1601057167
NM_000095.3(COMP):c.891C>A (p.Asn297Lys) rs2145903243
NM_000095.3(COMP):c.917_976-68del rs2145902395
NM_000095.3(COMP):c.925G>A (p.Gly309Arg) rs2145903203
NM_000095.3(COMP):c.949G>T (p.Asp317Tyr) rs2145903160
NM_000095.3(COMP):c.950A>G (p.Asp317Gly)
NM_000095.3(COMP):c.950A>T (p.Asp317Val) rs1601057057
NM_000095.3(COMP):c.976G>A (p.Asp326Asn) rs2145902345
NM_000095.3(COMP):c.982T>C (p.Cys328Arg) rs137852653
NM_000095.3(COMP):c.983G>T (p.Cys328Phe) rs2145902336

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