ClinVar Miner

List of variants reported as uncertain significance for developmental defect during embryogenesis by All of Us Research Program, National Institutes of Health

Included ClinVar conditions (2022):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 549
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) rs371583734 0.00017
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422 0.00015
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122 0.00014
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His) rs370069953 0.00013
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His) rs144260440 0.00011
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193 0.00011
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp) rs142045411 0.00011
NM_000090.4(COL3A1):c.838G>A (p.Ala280Thr) rs142042452 0.00011
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974 0.00010
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His) rs138533702 0.00010
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_000090.4(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769 0.00009
NM_000090.4(COL3A1):c.528+4C>T rs528758308 0.00009
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser) rs769622439 0.00007
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442 0.00007
NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser) rs757192342 0.00006
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946 0.00006
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His) rs568986390 0.00006
NM_000090.4(COL3A1):c.1585G>A (p.Val529Ile) rs140257722 0.00006
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu) rs139610730 0.00006
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln) rs886038983 0.00006
NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg) rs374537884 0.00006
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val) rs770168441 0.00004
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu) rs886038849 0.00004
NM_000090.4(COL3A1):c.272C>T (p.Pro91Leu) rs534898281 0.00004
NM_000090.4(COL3A1):c.3245G>A (p.Arg1082Gln) rs367754862 0.00004
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln) rs730880062 0.00004
NM_000090.4(COL3A1):c.3433A>G (p.Ser1145Gly) rs147706051 0.00004
NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg) rs769100283 0.00004
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr) rs550665335 0.00004
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala) rs375661583 0.00004
NM_000169.3(GLA):c.1261A>G (p.Met421Val) rs144060196 0.00004
NM_000090.4(COL3A1):c.1472G>A (p.Arg491Gln) rs774551212 0.00003
NM_000090.4(COL3A1):c.1662C>T (p.Pro554=) rs373963384 0.00003
NM_000090.4(COL3A1):c.1787G>A (p.Arg596Gln) rs774632188 0.00003
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser) rs372027308 0.00003
NM_000090.4(COL3A1):c.3466C>T (p.His1156Tyr) rs776814693 0.00003
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg) rs778419091 0.00003
NM_000169.3(GLA):c.419A>C (p.Lys140Thr) rs150228150 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.492G>A (p.Lys164=) rs146629065 0.00003
NM_000090.4(COL3A1):c.1283G>A (p.Arg428Gln) rs1021622002 0.00002
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu) rs1466862530 0.00002
NM_000090.4(COL3A1):c.1895C>T (p.Thr632Ile) rs769039976 0.00002
NM_000090.4(COL3A1):c.3001C>G (p.Pro1001Ala) rs777180110 0.00002
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr) rs775562650 0.00002
NM_000090.4(COL3A1):c.3484C>T (p.Pro1162Ser) rs762147747 0.00002
NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln) rs369494336 0.00002
NM_000090.4(COL3A1):c.3653C>T (p.Pro1218Leu) rs763901831 0.00002
NM_000090.4(COL3A1):c.3764G>A (p.Arg1255His) rs368119434 0.00002
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln) rs745656610 0.00002
NM_000090.4(COL3A1):c.4346T>C (p.Ile1449Thr) rs932369090 0.00002
NM_000090.4(COL3A1):c.4378G>A (p.Val1460Ile) rs561556753 0.00002
NM_000090.4(COL3A1):c.599A>C (p.Gln200Pro) rs780921226 0.00002
NM_000090.4(COL3A1):c.874G>A (p.Glu292Lys) rs138818489 0.00002
NM_000090.4(COL3A1):c.923G>A (p.Arg308Gln) rs753589858 0.00002
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro) rs886044779 0.00002
NM_000169.3(GLA):c.579G>C (p.Arg193Ser) rs782619655 0.00002
NM_000169.3(GLA):c.831G>C (p.Trp277Cys) rs782196174 0.00002
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000090.4(COL3A1):c.-10A>G rs41272793 0.00001
NM_000090.4(COL3A1):c.101A>G (p.His34Arg) rs752110396 0.00001
NM_000090.4(COL3A1):c.1109A>G (p.Glu370Gly) rs748323501 0.00001
NM_000090.4(COL3A1):c.1129G>A (p.Ala377Thr) rs1248348633 0.00001
NM_000090.4(COL3A1):c.118G>A (p.Ala40Thr) rs763720540 0.00001
NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr) rs794728035 0.00001
NM_000090.4(COL3A1):c.1333C>T (p.Pro445Ser) rs1688260053 0.00001
NM_000090.4(COL3A1):c.1338T>A (p.Arg446=) rs1553507953 0.00001
NM_000090.4(COL3A1):c.1346G>A (p.Arg449His) rs888082655 0.00001
NM_000090.4(COL3A1):c.1378G>A (p.Ala460Thr) rs745315358 0.00001
NM_000090.4(COL3A1):c.13G>A (p.Val5Met) rs1461198652 0.00001
NM_000090.4(COL3A1):c.1408C>T (p.Pro470Ser) rs748530632 0.00001
NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro) rs374532173 0.00001
NM_000090.4(COL3A1):c.1496T>C (p.Ile499Thr) rs1001748912 0.00001
NM_000090.4(COL3A1):c.14T>A (p.Val5Glu) rs751315184 0.00001
NM_000090.4(COL3A1):c.1513C>T (p.Pro505Ser) rs776430998 0.00001
NM_000090.4(COL3A1):c.1558G>A (p.Ala520Thr) rs1410374684 0.00001
NM_000090.4(COL3A1):c.1657C>T (p.Pro553Ser) rs752163277 0.00001
NM_000090.4(COL3A1):c.1685G>A (p.Arg562Gln) rs774146040 0.00001
NM_000090.4(COL3A1):c.1777A>G (p.Asn593Asp) rs1435010100 0.00001
NM_000090.4(COL3A1):c.178G>A (p.Val60Ile) rs762028131 0.00001
NM_000090.4(COL3A1):c.1801G>A (p.Gly601Arg) rs767889802 0.00001
NM_000090.4(COL3A1):c.1816-6T>G rs1474453319 0.00001
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser) rs772638774 0.00001
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410 0.00001
NM_000090.4(COL3A1):c.1976C>T (p.Pro659Leu) rs756822808 0.00001
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met) rs372269408 0.00001
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly) rs376603102 0.00001
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His) rs753162027 0.00001
NM_000090.4(COL3A1):c.205G>A (p.Asp69Asn) rs112714742 0.00001
NM_000090.4(COL3A1):c.2220G>A (p.Lys740=) rs541557925 0.00001
NM_000090.4(COL3A1):c.2264C>A (p.Pro755Gln) rs1553508711 0.00001
NM_000090.4(COL3A1):c.2461C>A (p.Pro821Thr) rs1296092212 0.00001
NM_000090.4(COL3A1):c.2485G>T (p.Ala829Ser) rs755676319 0.00001
NM_000090.4(COL3A1):c.2506G>A (p.Gly836Arg) rs1363971558 0.00001
NM_000090.4(COL3A1):c.2531C>T (p.Pro844Leu) rs943287668 0.00001
NM_000090.4(COL3A1):c.2587C>T (p.Arg863Cys) rs568639668 0.00001
NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr) rs761469859 0.00001
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu) rs1455100373 0.00001
NM_000090.4(COL3A1):c.2773G>A (p.Asp925Asn) rs929526823 0.00001
NM_000090.4(COL3A1):c.280G>T (p.Ala94Ser) rs761447734 0.00001
NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu) rs780260944 0.00001
NM_000090.4(COL3A1):c.2974C>A (p.Arg992Ser) rs1431359737 0.00001
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala) rs142457159 0.00001
NM_000090.4(COL3A1):c.3101G>A (p.Arg1034His) rs780788248 0.00001
NM_000090.4(COL3A1):c.313C>G (p.Gln105Glu) rs762567565 0.00001
NM_000090.4(COL3A1):c.316G>A (p.Gly106Ser) rs180938313 0.00001
NM_000090.4(COL3A1):c.3208G>T (p.Ala1070Ser) rs376738516 0.00001
NM_000090.4(COL3A1):c.3224C>T (p.Ala1075Val) rs952989325 0.00001
NM_000090.4(COL3A1):c.3262C>G (p.Gln1088Glu) rs1328301317 0.00001
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser) rs1464447467 0.00001
NM_000090.4(COL3A1):c.3344C>G (p.Pro1115Arg) rs1688622334 0.00001
NM_000090.4(COL3A1):c.3430C>T (p.Pro1144Ser) rs748793822 0.00001
NM_000090.4(COL3A1):c.3566C>T (p.Pro1189Leu) rs752598062 0.00001
NM_000090.4(COL3A1):c.3583C>T (p.Pro1195Ser) rs137912293 0.00001
NM_000090.4(COL3A1):c.3593G>A (p.Gly1198Asp) rs756858564 0.00001
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484 0.00001
NM_000090.4(COL3A1):c.3690C>G (p.Asn1230Lys) rs1190691997 0.00001
NM_000090.4(COL3A1):c.3745A>G (p.Ile1249Val) rs779018915 0.00001
NM_000090.4(COL3A1):c.3793C>A (p.Leu1265Met) rs200052168 0.00001
NM_000090.4(COL3A1):c.3808C>A (p.Pro1270Thr) rs756724842 0.00001
NM_000090.4(COL3A1):c.3824-14T>G rs762561768 0.00001
NM_000090.4(COL3A1):c.3845A>G (p.Asn1282Ser) rs1483989815 0.00001
NM_000090.4(COL3A1):c.3847C>G (p.Gln1283Glu) rs587779467 0.00001
NM_000090.4(COL3A1):c.3935G>A (p.Arg1312Gln) rs772919524 0.00001
NM_000090.4(COL3A1):c.4003G>A (p.Gly1335Ser) rs751807135 0.00001
NM_000090.4(COL3A1):c.4025A>G (p.Asn1342Ser) rs752777683 0.00001
NM_000090.4(COL3A1):c.40G>A (p.Ala14Thr) rs547373542 0.00001
NM_000090.4(COL3A1):c.40G>T (p.Ala14Ser) rs547373542 0.00001
NM_000090.4(COL3A1):c.4118A>G (p.Lys1373Arg) rs775951025 0.00001
NM_000090.4(COL3A1):c.4165G>T (p.Ala1389Ser) rs202022204 0.00001
NM_000090.4(COL3A1):c.41C>G (p.Ala14Gly) rs1231364424 0.00001
NM_000090.4(COL3A1):c.4220A>C (p.Lys1407Thr) rs747651283 0.00001
NM_000090.4(COL3A1):c.4253C>T (p.Thr1418Met) rs1012915558 0.00001
NM_000090.4(COL3A1):c.4276A>G (p.Lys1426Glu) rs908421014 0.00001
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu) rs772428340 0.00001
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys) rs747324731 0.00001
NM_000090.4(COL3A1):c.4340A>G (p.Tyr1447Cys) rs1407784923 0.00001
NM_000090.4(COL3A1):c.464A>G (p.Tyr155Cys) rs1160176510 0.00001
NM_000090.4(COL3A1):c.497T>A (p.Val166Glu) rs1016172772 0.00001
NM_000090.4(COL3A1):c.667C>T (p.Pro223Ser) rs1325737333 0.00001
NM_000090.4(COL3A1):c.713G>A (p.Arg238Gln) rs760324242 0.00001
NM_000090.4(COL3A1):c.884C>T (p.Ala295Val) rs1016767830 0.00001
NM_000090.4(COL3A1):c.897+4A>G rs886039191 0.00001
NM_000090.4(COL3A1):c.902C>G (p.Pro301Arg) rs1273313377 0.00001
NM_000169.3(GLA):c.1127T>A (p.Val376Glu) rs1555984793 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000169.3(GLA):c.313A>G (p.Arg105Gly) rs782092398 0.00001
NM_000169.3(GLA):c.361G>A (p.Ala121Thr) rs782197638 0.00001
NM_000169.3(GLA):c.43G>A (p.Ala15Thr) rs869312303 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.734G>T (p.Trp245Leu) rs398123220 0.00001
NM_000169.3(GLA):c.73G>A (p.Asp25Asn) rs781788693 0.00001
NM_000314.8(PTEN):c.-15C>T rs1064793241 0.00001
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile) rs758542021 0.00001
NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser) rs786203911 0.00001
NM_000314.8(PTEN):c.349A>C (p.Asn117His) rs771310592 0.00001
NM_000314.8(PTEN):c.350A>G (p.Asn117Ser) rs551221430 0.00001
NM_000314.8(PTEN):c.425G>A (p.Arg142Gln) rs753630034 0.00001
NM_000314.8(PTEN):c.440A>G (p.Lys147Arg) rs757087471 0.00001
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys) rs757498880 0.00001
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121 0.00001
NM_000314.8(PTEN):c.614T>C (p.Met205Thr) rs1185592373 0.00001
NM_000314.8(PTEN):c.625G>A (p.Gly209Arg) rs765433422 0.00001
NM_000314.8(PTEN):c.841C>G (p.Pro281Ala) rs750705904 0.00001
NM_000314.8(PTEN):c.858C>G (p.Thr286=) rs876660443 0.00001
NM_000314.8(PTEN):c.905G>A (p.Ser302Asn) rs745638189 0.00001
NM_000314.8(PTEN):c.923G>A (p.Arg308His) rs786201507 0.00001
NM_000090.4(COL3A1):c.-9T>C
NM_000090.4(COL3A1):c.1003C>T (p.Pro335Ser) rs757785982
NM_000090.4(COL3A1):c.1009C>T (p.Pro337Ser)
NM_000090.4(COL3A1):c.1057G>A (p.Val353Ile) rs1688228735
NM_000090.4(COL3A1):c.1058T>C (p.Val353Ala)
NM_000090.4(COL3A1):c.1093C>T (p.Pro365Ser)
NM_000090.4(COL3A1):c.109C>G (p.Gln37Glu)
NM_000090.4(COL3A1):c.1108G>A (p.Glu370Lys)
NM_000090.4(COL3A1):c.1108G>C (p.Glu370Gln)
NM_000090.4(COL3A1):c.1111C>A (p.Pro371Thr)
NM_000090.4(COL3A1):c.1150-10G>T
NM_000090.4(COL3A1):c.1198C>T (p.Pro400Ser) rs1229093142
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1201G>C (p.Ala401Pro) rs373858715
NM_000090.4(COL3A1):c.121G>A (p.Asp41Asn) rs794728035
NM_000090.4(COL3A1):c.1225C>G (p.Leu409Val) rs1026603456
NM_000090.4(COL3A1):c.1234G>A (p.Ala412Thr)
NM_000090.4(COL3A1):c.1264A>G (p.Asn422Asp) rs1688252085
NM_000090.4(COL3A1):c.1324G>C (p.Glu442Gln)
NM_000090.4(COL3A1):c.1387G>A (p.Glu463Lys) rs2153502439
NM_000090.4(COL3A1):c.1405T>A (p.Ser469Thr)
NM_000090.4(COL3A1):c.1435C>G (p.Pro479Ala)
NM_000090.4(COL3A1):c.1435C>T (p.Pro479Ser) rs1425504057
NM_000090.4(COL3A1):c.1445C>A (p.Ala482Glu)
NM_000090.4(COL3A1):c.1489A>G (p.Asn497Asp)
NM_000090.4(COL3A1):c.1505A>G (p.Glu502Gly)
NM_000090.4(COL3A1):c.1510-14C>A
NM_000090.4(COL3A1):c.1531G>C (p.Ala511Pro)
NM_000090.4(COL3A1):c.1536A>C (p.Pro512=) rs975159988
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg) rs142085247
NM_000090.4(COL3A1):c.1577G>A (p.Arg526Lys)
NM_000090.4(COL3A1):c.1624C>A (p.Pro542Thr)
NM_000090.4(COL3A1):c.1643A>T (p.Asp548Val)
NM_000090.4(COL3A1):c.1651C>A (p.Pro551Thr)
NM_000090.4(COL3A1):c.1658C>T (p.Pro553Leu) rs1330285574
NM_000090.4(COL3A1):c.1667G>A (p.Ser556Asn) rs1688319466
NM_000090.4(COL3A1):c.1668T>G (p.Ser556Arg) rs1688319570
NM_000090.4(COL3A1):c.1697C>G (p.Pro566Arg)
NM_000090.4(COL3A1):c.1712C>T (p.Pro571Leu)
NM_000090.4(COL3A1):c.1761T>A (p.Asp587Glu)
NM_000090.4(COL3A1):c.1765G>A (p.Ala589Thr) rs1327158014
NM_000090.4(COL3A1):c.1765G>T (p.Ala589Ser)
NM_000090.4(COL3A1):c.178G>C (p.Val60Leu)
NM_000090.4(COL3A1):c.1795C>A (p.Pro599Thr)
NM_000090.4(COL3A1):c.1804C>G (p.Pro602Ala) rs35795890
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.4(COL3A1):c.1867A>G (p.Thr623Ala)
NM_000090.4(COL3A1):c.1869+4A>G
NM_000090.4(COL3A1):c.1878T>A (p.Gly626=)
NM_000090.4(COL3A1):c.187G>A (p.Asp63Asn) rs1688031625
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys) rs769039976
NM_000090.4(COL3A1):c.1900C>A (p.Pro634Thr)
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser) rs762129273
NM_000090.4(COL3A1):c.1910C>T (p.Pro637Leu)
NM_000090.4(COL3A1):c.1938A>G (p.Thr646=)
NM_000090.4(COL3A1):c.1957A>C (p.Asn653His)
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu) rs2153501357
NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr) rs1064796979
NM_000090.4(COL3A1):c.1976C>A (p.Pro659Gln)
NM_000090.4(COL3A1):c.197T>G (p.Ile66Arg)
NM_000090.4(COL3A1):c.2020A>G (p.Lys674Glu)
NM_000090.4(COL3A1):c.205G>C (p.Asp69His)
NM_000090.4(COL3A1):c.2062T>A (p.Leu688Met)
NM_000090.4(COL3A1):c.2071G>A (p.Ala691Thr)
NM_000090.4(COL3A1):c.2072C>T (p.Ala691Val) rs199851835
NM_000090.4(COL3A1):c.2075C>T (p.Pro692Leu)
NM_000090.4(COL3A1):c.2084G>A (p.Arg695Lys)
NM_000090.4(COL3A1):c.2098C>T (p.Pro700Ser) rs1261828944
NM_000090.4(COL3A1):c.2101C>G (p.Pro701Ala) rs762687549
NM_000090.4(COL3A1):c.2108C>T (p.Pro703Leu) rs1688401669
NM_000090.4(COL3A1):c.2115A>T (p.Gly705=)
NM_000090.4(COL3A1):c.2138C>T (p.Pro713Leu)
NM_000090.4(COL3A1):c.2146C>T (p.Pro716Ser)
NM_000090.4(COL3A1):c.2152G>T (p.Ala718Ser)
NM_000090.4(COL3A1):c.2153C>T (p.Ala718Val)
NM_000090.4(COL3A1):c.2155G>A (p.Ala719Thr)
NM_000090.4(COL3A1):c.2188G>C (p.Glu730Gln)
NM_000090.4(COL3A1):c.218A>G (p.Asp73Gly)
NM_000090.4(COL3A1):c.2262C>T (p.Val754=)
NM_000090.4(COL3A1):c.2282G>A (p.Arg761Lys)
NM_000090.4(COL3A1):c.2284-15T>A
NM_000090.4(COL3A1):c.2296C>G (p.Pro766Ala)
NM_000090.4(COL3A1):c.229C>T (p.Pro77Ser) rs1688032952
NM_000090.4(COL3A1):c.2308C>T (p.Pro770Ser)
NM_000090.4(COL3A1):c.2350G>A (p.Ala784Thr)
NM_000090.4(COL3A1):c.2369T>C (p.Ile790Thr) rs1179918994
NM_000090.4(COL3A1):c.2381G>T (p.Arg794Leu)
NM_000090.4(COL3A1):c.2392-4T>A
NM_000090.4(COL3A1):c.2392-5T>A
NM_000090.4(COL3A1):c.23G>A (p.Gly8Glu) rs2153500011
NM_000090.4(COL3A1):c.2416C>T (p.Pro806Ser)
NM_000090.4(COL3A1):c.2434C>T (p.Pro812Ser)
NM_000090.4(COL3A1):c.2440G>A (p.Ala814Thr) rs1688486281
NM_000090.4(COL3A1):c.2441C>T (p.Ala814Val)
NM_000090.4(COL3A1):c.2446-5T>C
NM_000090.4(COL3A1):c.2462C>T (p.Pro821Leu)
NM_000090.4(COL3A1):c.2498A>T (p.Lys833Ile)
NM_000090.4(COL3A1):c.24G>C (p.Gly8=)
NM_000090.4(COL3A1):c.2507G>A (p.Gly836Glu)
NM_000090.4(COL3A1):c.2515C>T (p.Pro839Ser)
NM_000090.4(COL3A1):c.2530C>A (p.Pro844Thr)
NM_000090.4(COL3A1):c.2533C>A (p.Pro845Thr)
NM_000090.4(COL3A1):c.2575G>A (p.Val859Ile)
NM_000090.4(COL3A1):c.2587C>A (p.Arg863Ser)
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His) rs755762264
NM_000090.4(COL3A1):c.2588G>T (p.Arg863Leu)
NM_000090.4(COL3A1):c.2605C>A (p.Pro869Thr) rs758992360
NM_000090.4(COL3A1):c.2606C>A (p.Pro869His) rs794728052
NM_000090.4(COL3A1):c.2608-16_2608-12del
NM_000090.4(COL3A1):c.2614G>C (p.Ala872Pro) rs1475390693
NM_000090.4(COL3A1):c.2632C>T (p.Arg878Cys)
NM_000090.4(COL3A1):c.2639T>C (p.Leu880Pro)
NM_000090.4(COL3A1):c.2657G>C (p.Ser886Thr)
NM_000090.4(COL3A1):c.2662-12A>C
NM_000090.4(COL3A1):c.2669C>T (p.Pro890Leu)
NM_000090.4(COL3A1):c.2678C>G (p.Pro893Arg) rs1455100373
NM_000090.4(COL3A1):c.2703G>C (p.Lys901Asn)
NM_000090.4(COL3A1):c.2711C>T (p.Pro904Leu)
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.4(COL3A1):c.2776G>A (p.Ala926Thr)
NM_000090.4(COL3A1):c.2786C>A (p.Pro929Gln)
NM_000090.4(COL3A1):c.2801C>T (p.Ser934Leu) rs753621331
NM_000090.4(COL3A1):c.2804C>G (p.Pro935Arg)
NM_000090.4(COL3A1):c.2819C>A (p.Pro940Gln) rs1221479337
NM_000090.4(COL3A1):c.2823+4A>G
NM_000090.4(COL3A1):c.283-12del
NM_000090.4(COL3A1):c.2867G>A (p.Arg956Gln)
NM_000090.4(COL3A1):c.2867G>C (p.Arg956Pro)
NM_000090.4(COL3A1):c.286A>G (p.Thr96Ala)
NM_000090.4(COL3A1):c.2903G>A (p.Arg968Lys)
NM_000090.4(COL3A1):c.290G>A (p.Arg97His) rs1197947308
NM_000090.4(COL3A1):c.290G>T (p.Arg97Leu) rs1197947308
NM_000090.4(COL3A1):c.2932-6A>T rs1688561621
NM_000090.4(COL3A1):c.2939G>C (p.Ser980Thr)
NM_000090.4(COL3A1):c.2967T>G (p.Ser989Arg)
NM_000090.4(COL3A1):c.2971G>A (p.Glu991Lys)
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His) rs374527092
NM_000090.4(COL3A1):c.2981C>T (p.Pro994Leu) rs1688563132
NM_000090.4(COL3A1):c.2984C>G (p.Pro995Arg)
NM_000090.4(COL3A1):c.2989C>T (p.Pro997Ser) rs1060500202
NM_000090.4(COL3A1):c.2998C>T (p.Leu1000Phe)
NM_000090.4(COL3A1):c.300T>G (p.Asn100Lys) rs776373729
NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)
NM_000090.4(COL3A1):c.3046C>A (p.Pro1016Thr)
NM_000090.4(COL3A1):c.3064C>T (p.Pro1022Ser)
NM_000090.4(COL3A1):c.3073G>A (p.Asp1025Asn)
NM_000090.4(COL3A1):c.3079T>G (p.Ser1027Ala)
NM_000090.4(COL3A1):c.307G>A (p.Gly103Arg)
NM_000090.4(COL3A1):c.3089G>T (p.Gly1030Val)
NM_000090.4(COL3A1):c.3093+3A>C rs771429937
NM_000090.4(COL3A1):c.3093+4T>C
NM_000090.4(COL3A1):c.3094-8G>T
NM_000090.4(COL3A1):c.30G>C (p.Trp10Cys)
NM_000090.4(COL3A1):c.310C>G (p.Pro104Ala)
NM_000090.4(COL3A1):c.3115T>G (p.Ser1039Ala)
NM_000090.4(COL3A1):c.3125C>T (p.Ala1042Val)
NM_000090.4(COL3A1):c.3142C>T (p.His1048Tyr)
NM_000090.4(COL3A1):c.3143A>G (p.His1048Arg) rs2153503727
NM_000090.4(COL3A1):c.3154C>T (p.Pro1052Ser) rs2153503729
NM_000090.4(COL3A1):c.3200G>T (p.Ser1067Ile)
NM_000090.4(COL3A1):c.3205C>T (p.Pro1069Ser) rs200122671
NM_000090.4(COL3A1):c.3214C>T (p.Pro1072Ser) rs1688598580
NM_000090.4(COL3A1):c.322A>G (p.Lys108Glu)
NM_000090.4(COL3A1):c.3259C>T (p.Pro1087Ser) rs1688619897
NM_000090.4(COL3A1):c.3272G>A (p.Arg1091His)
NM_000090.4(COL3A1):c.3290C>G (p.Thr1097Arg) rs1224538144
NM_000090.4(COL3A1):c.3313A>G (p.Ile1105Val)
NM_000090.4(COL3A1):c.331C>T (p.Pro111Ser)
NM_000090.4(COL3A1):c.3349G>T (p.Ala1117Ser)
NM_000090.4(COL3A1):c.3361C>G (p.Pro1121Ala)
NM_000090.4(COL3A1):c.3364-4C>G
NM_000090.4(COL3A1):c.3364-8C>G
NM_000090.4(COL3A1):c.3364G>A (p.Gly1122Ser)
NM_000090.4(COL3A1):c.3367C>G (p.Pro1123Ala)
NM_000090.4(COL3A1):c.3370G>T (p.Ala1124Ser) rs1688630479
NM_000090.4(COL3A1):c.338C>T (p.Pro113Leu)
NM_000090.4(COL3A1):c.3403C>A (p.Pro1135Thr)
NM_000090.4(COL3A1):c.3417+4A>G
NM_000090.4(COL3A1):c.3421C>T (p.Pro1141Ser)
NM_000090.4(COL3A1):c.3424G>A (p.Val1142Ile) rs2153503966
NM_000090.4(COL3A1):c.3451G>T (p.Asp1151Tyr)
NM_000090.4(COL3A1):c.3457A>C (p.Thr1153Pro)
NM_000090.4(COL3A1):c.3469C>A (p.Pro1157Thr)
NM_000090.4(COL3A1):c.3525+5G>A rs2153503988
NM_000090.4(COL3A1):c.3532C>G (p.Pro1178Ala)
NM_000090.4(COL3A1):c.3542C>G (p.Pro1181Arg)
NM_000090.4(COL3A1):c.3559C>T (p.Pro1187Ser) rs2153504076
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser) rs1324996402
NM_000090.4(COL3A1):c.356G>A (p.Arg119Lys)
NM_000090.4(COL3A1):c.3575C>T (p.Ala1192Val)
NM_000090.4(COL3A1):c.3577C>T (p.Pro1193Ser) rs1275851079
NM_000090.4(COL3A1):c.3596G>T (p.Gly1199Val) rs1688658772
NM_000090.4(COL3A1):c.3602G>T (p.Gly1201Val)
NM_000090.4(COL3A1):c.3604G>A (p.Ala1202Thr) rs1270244946
NM_000090.4(COL3A1):c.3611C>T (p.Ala1204Val)
NM_000090.4(COL3A1):c.3638C>T (p.Ala1213Val)
NM_000090.4(COL3A1):c.366C>A (p.Asp122Glu)
NM_000090.4(COL3A1):c.3683A>C (p.Lys1228Thr)
NM_000090.4(COL3A1):c.3683A>T (p.Lys1228Ile)
NM_000090.4(COL3A1):c.368C>A (p.Pro123His)
NM_000090.4(COL3A1):c.3697G>C (p.Glu1233Gln)
NM_000090.4(COL3A1):c.3734T>C (p.Ile1245Thr)
NM_000090.4(COL3A1):c.3748A>G (p.Ser1250Gly)
NM_000090.4(COL3A1):c.3752C>T (p.Pro1251Leu)
NM_000090.4(COL3A1):c.3754G>A (p.Asp1252Asn) rs1688664293
NM_000090.4(COL3A1):c.3763C>T (p.Arg1255Cys) rs1576473569
NM_000090.4(COL3A1):c.3796A>G (p.Lys1266Glu)
NM_000090.4(COL3A1):c.3800T>C (p.Phe1267Ser) rs1194692141
NM_000090.4(COL3A1):c.3801C>G (p.Phe1267Leu) rs1042884028
NM_000090.4(COL3A1):c.3818A>T (p.Lys1273Met)
NM_000090.4(COL3A1):c.3823+3A>G
NM_000090.4(COL3A1):c.3868A>C (p.Ile1290Leu) rs757734757
NM_000090.4(COL3A1):c.3868A>G (p.Ile1290Val)
NM_000090.4(COL3A1):c.3869T>C (p.Ile1290Thr) rs1688690716
NM_000090.4(COL3A1):c.3885T>A (p.Asn1295Lys)
NM_000090.4(COL3A1):c.3887T>C (p.Met1296Thr)
NM_000090.4(COL3A1):c.3893C>A (p.Thr1298Asn)
NM_000090.4(COL3A1):c.390G>T (p.Gly130=) rs771480377
NM_000090.4(COL3A1):c.3917A>G (p.Asn1306Ser)
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu) rs886038983
NM_000090.4(COL3A1):c.3994A>G (p.Met1332Val)
NM_000090.4(COL3A1):c.4012-10C>G
NM_000090.4(COL3A1):c.4012-11C>A
NM_000090.4(COL3A1):c.4041A>C (p.Glu1347Asp)
NM_000090.4(COL3A1):c.4076T>A (p.Leu1359His)
NM_000090.4(COL3A1):c.4088G>A (p.Arg1363Gln) rs1227282800
NM_000090.4(COL3A1):c.40G>C (p.Ala14Pro)
NM_000090.4(COL3A1):c.412C>T (p.Pro138Ser)
NM_000090.4(COL3A1):c.4135A>G (p.Met1379Val) rs1060500196
NM_000090.4(COL3A1):c.4135A>T (p.Met1379Leu) rs1060500196
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile) rs1158116878
NM_000090.4(COL3A1):c.4204G>C (p.Ala1402Pro)
NM_000090.4(COL3A1):c.4205C>A (p.Ala1402Asp) rs1688708521
NM_000090.4(COL3A1):c.4247G>T (p.Gly1416Val)
NM_000090.4(COL3A1):c.4253C>A (p.Thr1418Lys) rs1012915558
NM_000090.4(COL3A1):c.4255-10T>G
NM_000090.4(COL3A1):c.4275C>A (p.Ser1425Arg) rs1688728943
NM_000090.4(COL3A1):c.4280C>T (p.Thr1427Ile)
NM_000090.4(COL3A1):c.4295G>A (p.Arg1432Gln) rs772428340
NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro) rs148015311
NM_000090.4(COL3A1):c.4321A>G (p.Ile1441Val)
NM_000090.4(COL3A1):c.4384C>A (p.Pro1462Thr) rs1688732943
NM_000090.4(COL3A1):c.43C>G (p.Leu15Val)
NM_000090.4(COL3A1):c.446A>T (p.Gln149Leu)
NM_000090.4(COL3A1):c.458C>G (p.Pro153Arg)
NM_000090.4(COL3A1):c.485C>G (p.Ser162Cys)
NM_000090.4(COL3A1):c.496G>C (p.Val166Leu)
NM_000090.4(COL3A1):c.508G>T (p.Ala170Ser)
NM_000090.4(COL3A1):c.517C>G (p.Pro173Ala)
NM_000090.4(COL3A1):c.526G>T (p.Ala176Ser)
NM_000090.4(COL3A1):c.542C>T (p.Pro181Leu) rs746628029
NM_000090.4(COL3A1):c.553C>G (p.Pro185Ala) rs1688100904
NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg) rs886038977
NM_000090.4(COL3A1):c.55A>C (p.Thr19Pro)
NM_000090.4(COL3A1):c.569A>C (p.His190Pro)
NM_000090.4(COL3A1):c.582+6dup
NM_000090.4(COL3A1):c.583-14A>T
NM_000090.4(COL3A1):c.583-6C>A
NM_000090.4(COL3A1):c.590C>A (p.Pro197Gln)
NM_000090.4(COL3A1):c.598C>A (p.Gln200Lys)
NM_000090.4(COL3A1):c.641C>T (p.Pro214Leu)
NM_000090.4(COL3A1):c.644C>G (p.Pro215Arg)
NM_000090.4(COL3A1):c.658G>A (p.Ala220Thr)
NM_000090.4(COL3A1):c.670T>C (p.Ser224Pro)
NM_000090.4(COL3A1):c.687A>T (p.Lys229Asn)
NM_000090.4(COL3A1):c.707C>T (p.Pro236Leu)
NM_000090.4(COL3A1):c.723G>T (p.Glu241Asp)
NM_000090.4(COL3A1):c.724C>G (p.Arg242Gly) rs1333421028
NM_000090.4(COL3A1):c.731T>C (p.Leu244Ser)
NM_000090.4(COL3A1):c.758C>G (p.Pro253Arg)
NM_000090.4(COL3A1):c.784A>G (p.Met262Val) rs1688161240
NM_000090.4(COL3A1):c.80C>G (p.Ala27Gly)
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly) rs1688177791
NM_000090.4(COL3A1):c.841C>G (p.Pro281Ala)
NM_000090.4(COL3A1):c.869C>T (p.Pro290Leu)
NM_000090.4(COL3A1):c.904A>G (p.Arg302Gly)
NM_000090.4(COL3A1):c.910G>C (p.Ala304Pro)
NM_000090.4(COL3A1):c.931C>T (p.Pro311Ser) rs2153502120
NM_000090.4(COL3A1):c.939T>C (p.Leu313=)
NM_000090.4(COL3A1):c.940C>G (p.Pro314Ala)
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser) rs958176385
NM_000090.4(COL3A1):c.952-11T>A
NM_000090.4(COL3A1):c.958C>G (p.Arg320Gly)
NM_000090.4(COL3A1):c.958C>T (p.Arg320Trp) rs1386163891
NM_000090.4(COL3A1):c.959G>A (p.Arg320Gln) rs778179067
NM_000090.4(COL3A1):c.982A>G (p.Ser328Gly) rs1688204324
NM_000090.4(COL3A1):c.992A>T (p.Gln331Leu)
NM_000090.4(COL3A1):c.997-4T>A
NM_000169.3(GLA):c.-1A>C
NM_000169.3(GLA):c.1000-14dup
NM_000169.3(GLA):c.1000-9G>A rs1928143594
NM_000169.3(GLA):c.1001G>A (p.Gly334Glu)
NM_000169.3(GLA):c.1007A>C (p.Asn336Thr) rs1569302786
NM_000169.3(GLA):c.1048G>A (p.Ala350Thr) rs1555984843
NM_000169.3(GLA):c.1101C>T (p.Ile367=) rs1928129537
NM_000169.3(GLA):c.1164C>T (p.Leu388=)
NM_000169.3(GLA):c.119C>G (p.Pro40Arg) rs398123199
NM_000169.3(GLA):c.178C>A (p.Pro60Thr) rs727504689
NM_000169.3(GLA):c.19G>C (p.Glu7Gln)
NM_000169.3(GLA):c.209T>C (p.Met70Thr)
NM_000169.3(GLA):c.228G>A (p.Met76Ile)
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.260A>T (p.Glu87Val)
NM_000169.3(GLA):c.305C>T (p.Ser102Leu)
NM_000169.3(GLA):c.317T>C (p.Leu106Pro)
NM_000169.3(GLA):c.357G>T (p.Gln119His)
NM_000169.3(GLA):c.369+3G>A rs1333591942
NM_000169.3(GLA):c.377G>T (p.Ser126Ile)
NM_000169.3(GLA):c.388A>C (p.Lys130Gln)
NM_000169.3(GLA):c.44C>T (p.Ala15Val)
NM_000169.3(GLA):c.455A>T (p.Tyr152Phe)
NM_000169.3(GLA):c.493G>A (p.Asp165Asn)
NM_000169.3(GLA):c.56T>C (p.Leu19Pro) rs1928592578
NM_000169.3(GLA):c.595G>T (p.Val199Leu)
NM_000169.3(GLA):c.64G>A (p.Val22Ile)
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.74A>G (p.Asp25Gly)
NM_000169.3(GLA):c.752A>G (p.Glu251Gly)
NM_000169.3(GLA):c.781G>A (p.Gly261Ser) rs886044878
NM_000169.3(GLA):c.790G>A (p.Asp264Asn)
NM_000169.3(GLA):c.802-14A>T
NM_000169.3(GLA):c.829T>G (p.Trp277Gly) rs727504372
NM_000169.3(GLA):c.848A>G (p.Gln283Arg)
NM_000169.3(GLA):c.852G>A (p.Met284Ile)
NM_000169.3(GLA):c.913C>T (p.Pro305Ser)
NM_000169.3(GLA):c.968C>G (p.Pro323Arg) rs869312159
NM_000314.8(PTEN):c.*1_*2del
NM_000314.8(PTEN):c.*3T>C
NM_000314.8(PTEN):c.-7C>T rs1064795131
NM_000314.8(PTEN):c.1002C>G (p.Asn334Lys) rs1554825620
NM_000314.8(PTEN):c.1004G>A (p.Arg335Gln) rs1085308040
NM_000314.8(PTEN):c.1015C>G (p.Pro339Ala)
NM_000314.8(PTEN):c.1018A>C (p.Asn340His) rs759852661
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.8(PTEN):c.1092T>G (p.Ser364=) rs1355576298
NM_000314.8(PTEN):c.1096A>G (p.Thr366Ala) rs1564570409
NM_000314.8(PTEN):c.1130A>T (p.Tyr377Phe) rs751286806
NM_000314.8(PTEN):c.1172C>T (p.Pro391Leu) rs1554826059
NM_000314.8(PTEN):c.1193C>T (p.Thr398Ile) rs1860739729
NM_000314.8(PTEN):c.146A>G (p.Asn49Ser) rs992385562
NM_000314.8(PTEN):c.196A>C (p.Lys66Gln)
NM_000314.8(PTEN):c.206A>G (p.Asn69Ser) rs786204922
NM_000314.8(PTEN):c.212G>T (p.Cys71Phe) rs1554897856
NM_000314.8(PTEN):c.230A>G (p.Asp77Gly)
NM_000314.8(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.8(PTEN):c.254-13C>G
NM_000314.8(PTEN):c.254-3_254-2del rs1064794169
NM_000314.8(PTEN):c.348C>A (p.Asp116Glu) rs1114167651
NM_000314.8(PTEN):c.364A>G (p.Ile122Val) rs786202740
NM_000314.8(PTEN):c.413A>G (p.Tyr138Cys) rs1554898159
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg) rs786202753
NM_000314.8(PTEN):c.491A>T (p.Lys164Met)
NM_000314.8(PTEN):c.493-7C>T rs1554900492
NM_000314.8(PTEN):c.505C>G (p.Pro169Ala) rs1564837747
NM_000314.8(PTEN):c.55G>A (p.Asp19Asn) rs121909233
NM_000314.8(PTEN):c.571G>T (p.Val191Leu) rs1060500130
NM_000314.8(PTEN):c.575C>G (p.Ala192Gly)
NM_000314.8(PTEN):c.595A>G (p.Met199Val) rs1434191423
NM_000314.8(PTEN):c.607A>G (p.Ile203Val) rs1564837997
NM_000314.8(PTEN):c.649G>C (p.Val217Leu)
NM_000314.8(PTEN):c.687_688insACGAAT (p.Ser229_Gly230insThrAsn)
NM_000314.8(PTEN):c.700C>G (p.Arg234Gly) rs786201730
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.8(PTEN):c.701G>T (p.Arg234Leu)
NM_000314.8(PTEN):c.713T>C (p.Phe238Ser)
NM_000314.8(PTEN):c.719A>G (p.Tyr240Cys)
NM_000314.8(PTEN):c.731C>T (p.Pro244Leu)
NM_000314.8(PTEN):c.802-3T>A rs587780712
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.919G>C (p.Glu307Gln) rs746930141
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) rs1064794436
NM_000314.8(PTEN):c.923G>T (p.Arg308Leu)
NM_000314.8(PTEN):c.953T>G (p.Leu318Arg)
NM_000314.8(PTEN):c.96T>G (p.Ile32Met)
NM_000314.8(PTEN):c.998C>A (p.Ala333Asp) rs1554825616

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