ClinVar Miner

List of variants in gene P3H1 reported as uncertain significance for Osteogenesis imperfecta type 8

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys) rs3738497 0.00321
NM_022356.4(P3H1):c.*262C>T rs41303415 0.00257
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00103
NM_022356.4(P3H1):c.1806A>C (p.Lys602Asn) rs144336336 0.00066
NM_022356.4(P3H1):c.727C>T (p.Arg243Cys) rs146982397 0.00056
NM_022356.4(P3H1):c.1660C>T (p.Arg554Cys) rs138860050 0.00033
NM_022356.4(P3H1):c.1963A>G (p.Thr655Ala) rs138939786 0.00032
NM_022356.4(P3H1):c.1720+4G>A rs371232413 0.00031
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_022356.4(P3H1):c.1339C>T (p.Arg447Trp) rs150951532 0.00017
NM_022356.4(P3H1):c.1232G>A (p.Arg411Gln) rs148636462 0.00016
NM_022356.4(P3H1):c.1721-4C>T rs200901466 0.00015
NM_022356.4(P3H1):c.1307C>T (p.Thr436Ile) rs143729962 0.00014
NM_022356.4(P3H1):c.426G>T (p.Lys142Asn) rs200334947 0.00013
NM_022356.4(P3H1):c.689C>T (p.Ala230Val) rs369342678 0.00013
NM_022356.4(P3H1):c.1087A>G (p.Lys363Glu) rs146476495 0.00011
NM_022356.4(P3H1):c.1402G>T (p.Gly468Cys) rs142844222 0.00010
NM_022356.4(P3H1):c.1601G>A (p.Ser534Asn) rs761150997 0.00010
NM_022356.4(P3H1):c.1429G>A (p.Val477Ile) rs201170161 0.00009
NM_022356.4(P3H1):c.1243G>A (p.Val415Ile) rs147423732 0.00008
NM_022356.4(P3H1):c.1224G>A (p.Lys408=) rs778202277 0.00006
NM_022356.4(P3H1):c.1579G>A (p.Glu527Lys) rs962784379 0.00006
NM_022356.4(P3H1):c.1828C>T (p.Arg610Cys) rs150808079 0.00006
NM_022356.4(P3H1):c.807A>G (p.Thr269=) rs750943926 0.00005
NM_022356.4(P3H1):c.1072C>A (p.Pro358Thr) rs150509550 0.00004
NM_022356.4(P3H1):c.113T>C (p.Leu38Pro) rs528960354 0.00004
NM_022356.4(P3H1):c.1285G>A (p.Glu429Lys) rs141759655 0.00004
NM_022356.4(P3H1):c.1472A>G (p.Asn491Ser) rs754714794 0.00004
NM_022356.4(P3H1):c.1637G>A (p.Arg546Gln) rs758596191 0.00004
NM_022356.4(P3H1):c.1831G>T (p.Asp611Tyr) rs200935208 0.00004
NM_022356.4(P3H1):c.1945G>A (p.Val649Met) rs775492271 0.00004
NM_022356.4(P3H1):c.2006G>A (p.Arg669His) rs578161008 0.00004
NM_022356.4(P3H1):c.2032C>A (p.Leu678Met) rs202209556 0.00004
NM_022356.4(P3H1):c.811C>T (p.His271Tyr) rs374314894 0.00004
NM_022356.4(P3H1):c.822G>C (p.Gln274His) rs372301077 0.00004
NM_022356.4(P3H1):c.935A>G (p.Tyr312Cys) rs374135158 0.00004
NM_022356.4(P3H1):c.1076G>A (p.Arg359His) rs559371057 0.00003
NM_022356.4(P3H1):c.1135G>A (p.Ala379Thr) rs762013462 0.00003
NM_022356.4(P3H1):c.1208T>C (p.Leu403Ser) rs143930669 0.00003
NM_022356.4(P3H1):c.1411C>T (p.Arg471Trp) rs147230023 0.00003
NM_022356.4(P3H1):c.1412G>T (p.Arg471Leu) rs377645905 0.00003
NM_022356.4(P3H1):c.1625C>T (p.Thr542Met) rs201236270 0.00003
NM_022356.4(P3H1):c.1640G>A (p.Arg547His) rs750685729 0.00003
NM_022356.4(P3H1):c.2104G>A (p.Glu702Lys) rs565510744 0.00003
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys) rs771006240 0.00003
NM_022356.4(P3H1):c.394C>T (p.Leu132Phe) rs769782854 0.00003
NM_022356.4(P3H1):c.511G>A (p.Val171Met) rs997474863 0.00003
NM_022356.4(P3H1):c.566T>C (p.Met189Thr) rs776145937 0.00003
NM_022356.4(P3H1):c.629G>A (p.Arg210Gln) rs373561725 0.00003
NM_022356.4(P3H1):c.739G>A (p.Glu247Lys) rs760265361 0.00003
NM_022356.4(P3H1):c.970G>A (p.Ala324Thr) rs962560071 0.00003
NM_022356.4(P3H1):c.1231C>T (p.Arg411Trp) rs146128481 0.00002
NM_022356.4(P3H1):c.1237A>G (p.Thr413Ala) rs755460349 0.00002
NM_022356.4(P3H1):c.1559A>G (p.Lys520Arg) rs752109889 0.00002
NM_022356.4(P3H1):c.1616A>G (p.Tyr539Cys) rs772654104 0.00002
NM_022356.4(P3H1):c.1944C>T (p.Ala648=) rs760909376 0.00002
NM_022356.4(P3H1):c.2053C>T (p.Arg685Trp) rs774693500 0.00002
NM_022356.4(P3H1):c.2128C>T (p.Pro710Ser) rs1486613257 0.00002
NM_022356.4(P3H1):c.326T>G (p.Phe109Cys) rs761389160 0.00002
NM_022356.4(P3H1):c.7G>A (p.Val3Ile) rs773870737 0.00002
NM_022356.4(P3H1):c.830A>G (p.Asn277Ser) rs200403014 0.00002
NM_022356.4(P3H1):c.953C>T (p.Thr318Ile) rs201020061 0.00002
NM_022356.4(P3H1):c.1069G>A (p.Gly357Ser) rs1181269848 0.00001
NM_022356.4(P3H1):c.1075C>T (p.Arg359Cys) rs548639069 0.00001
NM_022356.4(P3H1):c.1097G>A (p.Arg366Gln) rs781162194 0.00001
NM_022356.4(P3H1):c.1103G>A (p.Arg368Gln) rs751395741 0.00001
NM_022356.4(P3H1):c.1141G>C (p.Asp381His) rs769330518 0.00001
NM_022356.4(P3H1):c.1246C>T (p.Arg416Cys) rs199597388 0.00001
NM_022356.4(P3H1):c.1247G>A (p.Arg416His) rs763373396 0.00001
NM_022356.4(P3H1):c.1249A>G (p.Ile417Val) rs1389727493 0.00001
NM_022356.4(P3H1):c.1367G>A (p.Gly456Asp) rs781335485 0.00001
NM_022356.4(P3H1):c.146G>A (p.Gly49Glu) rs1035425402 0.00001
NM_022356.4(P3H1):c.148G>A (p.Asp50Asn) rs375176399 0.00001
NM_022356.4(P3H1):c.1502G>A (p.Arg501Gln) rs557547513 0.00001
NM_022356.4(P3H1):c.1523C>A (p.Thr508Asn) rs759787229 0.00001
NM_022356.4(P3H1):c.1600A>G (p.Ser534Gly) rs764540430 0.00001
NM_022356.4(P3H1):c.1613A>G (p.Tyr538Cys) rs748917248 0.00001
NM_022356.4(P3H1):c.1636C>T (p.Arg546Trp) rs779744195 0.00001
NM_022356.4(P3H1):c.1639C>T (p.Arg547Cys) rs1440258565 0.00001
NM_022356.4(P3H1):c.1645A>G (p.Met549Val) rs201036797 0.00001
NM_022356.4(P3H1):c.1661G>A (p.Arg554His) rs376337637 0.00001
NM_022356.4(P3H1):c.1670C>T (p.Thr557Met) rs762603538 0.00001
NM_022356.4(P3H1):c.1706G>A (p.Arg569His) rs758131023 0.00001
NM_022356.4(P3H1):c.1762G>A (p.Val588Met) rs763655582 0.00001
NM_022356.4(P3H1):c.1786G>A (p.Glu596Lys) rs771866490 0.00001
NM_022356.4(P3H1):c.1792C>T (p.Leu598Phe) rs1344810292 0.00001
NM_022356.4(P3H1):c.1829G>A (p.Arg610His) rs538936362 0.00001
NM_022356.4(P3H1):c.1889C>T (p.Thr630Ile) rs751516211 0.00001
NM_022356.4(P3H1):c.1909G>A (p.Val637Met) rs983158177 0.00001
NM_022356.4(P3H1):c.1919A>G (p.Glu640Gly) rs764935317 0.00001
NM_022356.4(P3H1):c.193C>T (p.Arg65Trp) rs1478435101 0.00001
NM_022356.4(P3H1):c.2005C>T (p.Arg669Cys) rs1482209044 0.00001
NM_022356.4(P3H1):c.2050G>A (p.Glu684Lys) rs759714439 0.00001
NM_022356.4(P3H1):c.2110G>C (p.Asp704His) rs775358603 0.00001
NM_022356.4(P3H1):c.368G>C (p.Cys123Ser) rs1310667421 0.00001
NM_022356.4(P3H1):c.388C>G (p.His130Asp) rs1348446019 0.00001
NM_022356.4(P3H1):c.462C>G (p.Phe154Leu) rs1404923329 0.00001
NM_022356.4(P3H1):c.582G>C (p.Glu194Asp) rs1235483593 0.00001
NM_022356.4(P3H1):c.599T>G (p.Leu200Arg) rs747865105 0.00001
NM_022356.4(P3H1):c.618+4A>G rs191121940 0.00001
NM_022356.4(P3H1):c.646T>G (p.Tyr216Asp) rs1378406205 0.00001
NM_022356.4(P3H1):c.653A>C (p.Glu218Ala) rs753716259 0.00001
NM_022356.4(P3H1):c.698A>C (p.Gln233Pro) rs903215732 0.00001
NM_022356.4(P3H1):c.716A>G (p.Tyr239Cys) rs201104050 0.00001
NM_022356.4(P3H1):c.737G>A (p.Cys246Tyr) rs1199863657 0.00001
NM_022356.4(P3H1):c.749A>G (p.Tyr250Cys) rs1250740001 0.00001
NM_022356.4(P3H1):c.760G>A (p.Gly254Ser) rs914752084 0.00001
NM_022356.4(P3H1):c.79G>A (p.Glu27Lys) rs746863189 0.00001
NM_022356.4(P3H1):c.826C>G (p.Leu276Val) rs757498418 0.00001
NM_022356.4(P3H1):c.874C>G (p.Arg292Gly) rs773269078 0.00001
NM_022356.4(P3H1):c.88T>C (p.Trp30Arg) rs1172430769 0.00001
NM_022356.4(P3H1):c.908A>T (p.His303Leu) rs1191275386 0.00001
NM_022356.4(P3H1):c.934T>C (p.Tyr312His) rs1180298586 0.00001
NM_022356.4(P3H1):c.939C>G (p.Asn313Lys) rs1373305113 0.00001
NM_022356.4(P3H1):c.980A>G (p.Tyr327Cys) rs1454717997 0.00001
NM_022356.4(P3H1):c.1003G>A (p.Glu335Lys) rs941343754
NM_022356.4(P3H1):c.1018A>G (p.Asn340Asp)
NM_022356.4(P3H1):c.1019A>G (p.Asn340Ser) rs759697322
NM_022356.4(P3H1):c.1021T>G (p.Leu341Val) rs1652488613
NM_022356.4(P3H1):c.1027T>C (p.Tyr343His)
NM_022356.4(P3H1):c.103C>T (p.Pro35Ser) rs2124176478
NM_022356.4(P3H1):c.1066A>T (p.Ile356Phe)
NM_022356.4(P3H1):c.1067T>A (p.Ile356Asn) rs1184804170
NM_022356.4(P3H1):c.1075C>G (p.Arg359Gly) rs548639069
NM_022356.4(P3H1):c.1080+3G>A
NM_022356.4(P3H1):c.1080+3G>C
NM_022356.4(P3H1):c.109C>G (p.Leu37Val)
NM_022356.4(P3H1):c.1102C>G (p.Arg368Gly) rs118203996
NM_022356.4(P3H1):c.112C>T (p.Leu38Phe) rs2124176450
NM_022356.4(P3H1):c.1169C>T (p.Pro390Leu)
NM_022356.4(P3H1):c.1170+15A>G
NM_022356.4(P3H1):c.1170+18A>T rs2124124471
NM_022356.4(P3H1):c.1170G>A (p.Pro390=)
NM_022356.4(P3H1):c.1175C>T (p.Ser392Leu)
NM_022356.4(P3H1):c.1243G>T (p.Val415Leu)
NM_022356.4(P3H1):c.1256A>G (p.Gln419Arg)
NM_022356.4(P3H1):c.1281A>T (p.Glu427Asp)
NM_022356.4(P3H1):c.1325T>C (p.Val442Ala) rs1308933452
NM_022356.4(P3H1):c.1342G>A (p.Glu448Lys)
NM_022356.4(P3H1):c.1346G>A (p.Gly449Asp)
NM_022356.4(P3H1):c.1391A>G (p.Lys464Arg)
NM_022356.4(P3H1):c.1406C>T (p.Ser469Phe) rs2124110566
NM_022356.4(P3H1):c.1411C>G (p.Arg471Gly) rs147230023
NM_022356.4(P3H1):c.1412G>A (p.Arg471Gln) rs377645905
NM_022356.4(P3H1):c.1417G>A (p.Val473Met)
NM_022356.4(P3H1):c.1426G>A (p.Gly476Ser) rs761570342
NM_022356.4(P3H1):c.1448G>A (p.Cys483Tyr)
NM_022356.4(P3H1):c.1473+3A>G rs1652167519
NM_022356.4(P3H1):c.1473+4A>G
NM_022356.4(P3H1):c.1473T>C (p.Asn491=)
NM_022356.4(P3H1):c.1511C>T (p.Thr504Ile) rs2124108863
NM_022356.4(P3H1):c.1523C>G (p.Thr508Ser) rs759787229
NM_022356.4(P3H1):c.1526C>A (p.Pro509His)
NM_022356.4(P3H1):c.1529A>C (p.Asn510Thr) rs149894086
NM_022356.4(P3H1):c.1541A>G (p.Tyr514Cys) rs1011790349
NM_022356.4(P3H1):c.1604C>T (p.Ala535Val) rs1651963746
NM_022356.4(P3H1):c.1610T>C (p.Leu537Pro) rs2124094046
NM_022356.4(P3H1):c.1618_1620del (p.Asn540del) rs1557562500
NM_022356.4(P3H1):c.1621G>A (p.Val541Met) rs369552220
NM_022356.4(P3H1):c.1621G>C (p.Val541Leu)
NM_022356.4(P3H1):c.1627G>A (p.Glu543Lys) rs1651960578
NM_022356.4(P3H1):c.163G>A (p.Val55Ile) rs2124175927
NM_022356.4(P3H1):c.1661G>T (p.Arg554Leu) rs376337637
NM_022356.4(P3H1):c.1685C>G (p.Ser562Cys) rs1651954957
NM_022356.4(P3H1):c.1709C>T (p.Thr570Ile)
NM_022356.4(P3H1):c.1720+3G>A
NM_022356.4(P3H1):c.1721-5C>A rs1430349543
NM_022356.4(P3H1):c.1722G>C (p.Glu574Asp) rs1651848301
NM_022356.4(P3H1):c.1793T>G (p.Leu598Arg) rs2124082697
NM_022356.4(P3H1):c.1795G>C (p.Val599Leu) rs140254470
NM_022356.4(P3H1):c.1795G>T (p.Val599Leu) rs140254470
NM_022356.4(P3H1):c.1829G>T (p.Arg610Leu)
NM_022356.4(P3H1):c.1840G>A (p.Ala614Thr) rs868224632
NM_022356.4(P3H1):c.1840G>T (p.Ala614Ser) rs868224632
NM_022356.4(P3H1):c.1914+5G>C rs1570454763
NM_022356.4(P3H1):c.1914G>A (p.Thr638=) rs765091931
NM_022356.4(P3H1):c.1945G>C (p.Val649Leu) rs775492271
NM_022356.4(P3H1):c.1972C>A (p.Pro658Thr) rs1570453990
NM_022356.4(P3H1):c.1988C>G (p.Ala663Gly) rs1651782504
NM_022356.4(P3H1):c.1996A>G (p.Arg666Gly) rs1477470732
NM_022356.4(P3H1):c.1998G>C (p.Arg666Ser)
NM_022356.4(P3H1):c.2017G>A (p.Ala673Thr) rs192750565
NM_022356.4(P3H1):c.2017G>T (p.Ala673Ser)
NM_022356.4(P3H1):c.2024G>T (p.Trp675Leu) rs1226770904
NM_022356.4(P3H1):c.2054G>T (p.Arg685Leu)
NM_022356.4(P3H1):c.2056-5T>A
NM_022356.4(P3H1):c.2073T>A (p.Asp691Glu) rs764716982
NM_022356.4(P3H1):c.2108T>C (p.Met703Thr) rs915416583
NM_022356.4(P3H1):c.2124G>C (p.Glu708Asp)
NM_022356.4(P3H1):c.2135A>T (p.Asp712Val)
NM_022356.4(P3H1):c.2146G>C (p.Gly716Arg) rs1295977850
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs) rs1570452214
NM_022356.4(P3H1):c.2181C>T (p.Gly727=) rs2124072049
NM_022356.4(P3H1):c.2209T>C (p.Ter737Arg)
NM_022356.4(P3H1):c.308C>T (p.Ala103Val)
NM_022356.4(P3H1):c.310del (p.Leu104fs) rs1653018691
NM_022356.4(P3H1):c.32C>T (p.Thr11Ile) rs1570487789
NM_022356.4(P3H1):c.331G>C (p.Gly111Arg) rs1557580485
NM_022356.4(P3H1):c.332G>A (p.Gly111Glu) rs763732280
NM_022356.4(P3H1):c.337C>G (p.Leu113Val) rs965203707
NM_022356.4(P3H1):c.343C>T (p.Arg115Cys) rs1653015841
NM_022356.4(P3H1):c.395T>C (p.Leu132Pro) rs951159895
NM_022356.4(P3H1):c.399C>A (p.Ser133Arg) rs1557580282
NM_022356.4(P3H1):c.41C>G (p.Ala14Gly)
NM_022356.4(P3H1):c.420C>G (p.Phe140Leu) rs1027100537
NM_022356.4(P3H1):c.466A>G (p.Ile156Val) rs751518628
NM_022356.4(P3H1):c.527A>T (p.His176Leu)
NM_022356.4(P3H1):c.530T>C (p.Met177Thr)
NM_022356.4(P3H1):c.586G>A (p.Asp196Asn)
NM_022356.4(P3H1):c.589T>C (p.Phe197Leu)
NM_022356.4(P3H1):c.617T>C (p.Met206Thr)
NM_022356.4(P3H1):c.62A>G (p.Gln21Arg)
NM_022356.4(P3H1):c.641_643del (p.Arg214del) rs2124143063
NM_022356.4(P3H1):c.643C>T (p.Leu215Phe) rs1652579090
NM_022356.4(P3H1):c.674T>C (p.Val225Ala) rs1557573602
NM_022356.4(P3H1):c.691G>A (p.Ala231Thr) rs2124142756
NM_022356.4(P3H1):c.69G>C (p.Glu23Asp) rs1237398609
NM_022356.4(P3H1):c.728G>C (p.Arg243Pro)
NM_022356.4(P3H1):c.730G>A (p.Ala244Thr)
NM_022356.4(P3H1):c.751_765dup (p.Asp251_Tyr255dup) rs1652568948
NM_022356.4(P3H1):c.781A>G (p.Asn261Asp)
NM_022356.4(P3H1):c.808+4C>T
NM_022356.4(P3H1):c.808+5G>A rs368972030
NM_022356.4(P3H1):c.808+5G>T
NM_022356.4(P3H1):c.808+6T>C
NM_022356.4(P3H1):c.815A>T (p.Tyr272Phe) rs1652552999
NM_022356.4(P3H1):c.881A>C (p.Lys294Thr)
NM_022356.4(P3H1):c.895T>C (p.Phe299Leu)
NM_022356.4(P3H1):c.905C>T (p.Ser302Leu) rs772625904
NM_022356.4(P3H1):c.941-3C>T
NM_022356.4(P3H1):c.950A>T (p.Tyr317Phe)
NM_022356.4(P3H1):c.957G>C (p.Gln319His) rs2124135719
NM_022356.4(P3H1):c.961G>A (p.Val321Ile) rs866278783
NM_022356.4(P3H1):c.971C>T (p.Ala324Val)
NM_022356.4(P3H1):c.988T>G (p.Phe330Val)

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