ClinVar Miner

List of variants reported as likely benign 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: 305
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=) rs149790711 0.00053
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=) rs34781844 0.00050
NM_000090.4(COL3A1):c.1476A>C (p.Gly492=) rs111683983 0.00045
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=) rs779774302 0.00017
NM_000090.4(COL3A1):c.1617C>T (p.Pro539=) rs141091206 0.00016
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=) rs112164939 0.00016
NM_000090.4(COL3A1):c.2229+6G>A rs10186160 0.00015
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_000090.4(COL3A1):c.2733T>C (p.Thr911=) rs138961881 0.00013
NM_000090.4(COL3A1):c.1854A>T (p.Gly618=) rs370034518 0.00012
NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=) rs146837092 0.00012
NM_000314.8(PTEN):c.1197A>G (p.Gln399=) rs374684043 0.00012
NM_000090.4(COL3A1):c.1347+6T>C rs373343032 0.00011
NM_000090.4(COL3A1):c.120G>A (p.Ala40=) rs138115610 0.00010
NM_000090.4(COL3A1):c.1707T>C (p.Ser569=) rs141542949 0.00010
NM_000090.4(COL3A1):c.2712C>T (p.Pro904=) rs375673185 0.00010
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000090.4(COL3A1):c.1701G>A (p.Gly567=) rs765802289 0.00009
NM_000090.4(COL3A1):c.3256-12A>G rs763415324 0.00009
NM_000090.4(COL3A1):c.1050+6C>T rs528634384 0.00008
NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795 0.00008
NM_000090.4(COL3A1):c.3630T>G (p.Gly1210=) rs771034601 0.00008
NM_000090.4(COL3A1):c.2277C>T (p.Gly759=) rs763343051 0.00007
NM_000090.4(COL3A1):c.4026T>C (p.Asn1342=) rs147250987 0.00007
NM_000090.4(COL3A1):c.1128C>T (p.His376=) rs771015742 0.00006
NM_000090.4(COL3A1):c.1995C>T (p.Ala665=) rs149093989 0.00006
NM_000090.4(COL3A1):c.217G>C (p.Asp73His) rs200246388 0.00006
NM_000090.4(COL3A1):c.2355C>T (p.Pro785=) rs148901664 0.00006
NM_000090.4(COL3A1):c.2688C>T (p.Ser896=) rs112723105 0.00006
NM_000090.4(COL3A1):c.2913T>G (p.Pro971=) rs367872728 0.00006
NM_000090.4(COL3A1):c.3228C>T (p.Pro1076=) rs200917999 0.00006
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=) rs148918486 0.00006
NM_000090.4(COL3A1):c.546C>T (p.Pro182=) rs754584062 0.00006
NM_000090.4(COL3A1):c.873C>T (p.Gly291=) rs138569287 0.00006
NM_000090.4(COL3A1):c.898-5T>C rs535434618 0.00006
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
NM_000090.4(COL3A1):c.2241C>T (p.Gly747=) rs745440847 0.00005
NM_000169.3(GLA):c.891T>C (p.Ser297=) rs782575087 0.00005
NM_000314.8(PTEN):c.*5T>C rs1006891299 0.00005
NM_000090.4(COL3A1):c.1071G>C (p.Gly357=) rs373908002 0.00004
NM_000090.4(COL3A1):c.1261G>A (p.Ala421Thr) rs372329498 0.00004
NM_000090.4(COL3A1):c.1743C>T (p.Pro581=) rs140229974 0.00004
NM_000090.4(COL3A1):c.2148T>C (p.Pro716=) rs146492493 0.00004
NM_000090.4(COL3A1):c.2802G>A (p.Ser934=) rs113870310 0.00004
NM_000090.4(COL3A1):c.3066A>G (p.Pro1022=) rs756680770 0.00004
NM_000090.4(COL3A1):c.4255-14G>A rs758216726 0.00004
NM_000090.4(COL3A1):c.87A>C (p.Glu29Asp) rs760482912 0.00004
NM_000090.4(COL3A1):c.1176T>C (p.Pro392=) rs778702019 0.00003
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=) rs755731385 0.00003
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=) rs794727586 0.00003
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=) rs369992399 0.00003
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=) rs574331101 0.00003
NM_000090.4(COL3A1):c.39C>T (p.Leu13=) rs1343634872 0.00003
NM_000090.4(COL3A1):c.708C>T (p.Pro236=) rs775390389 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000090.4(COL3A1):c.1023C>T (p.Ala341=) rs373392096 0.00002
NM_000090.4(COL3A1):c.1038C>T (p.Ser346=) rs772423521 0.00002
NM_000090.4(COL3A1):c.1473A>C (p.Arg491=) rs759650260 0.00002
NM_000090.4(COL3A1):c.1746T>C (p.Gly582=) rs1373257114 0.00002
NM_000090.4(COL3A1):c.1860A>T (p.Pro620=) rs141128796 0.00002
NM_000090.4(COL3A1):c.186C>T (p.Cys62=) rs764749176 0.00002
NM_000090.4(COL3A1):c.2109C>T (p.Pro703=) rs746947080 0.00002
NM_000090.4(COL3A1):c.2187A>G (p.Gly729=) rs772997837 0.00002
NM_000090.4(COL3A1):c.2394T>C (p.Gly798=) rs886038982 0.00002
NM_000090.4(COL3A1):c.2608-10C>T rs1217009146 0.00002
NM_000090.4(COL3A1):c.2958C>T (p.Asn986=) rs41264441 0.00002
NM_000090.4(COL3A1):c.300T>C (p.Asn100=) rs776373729 0.00002
NM_000090.4(COL3A1):c.3057T>C (p.Asp1019=) rs151192026 0.00002
NM_000090.4(COL3A1):c.3776C>T (p.Ala1259Val) rs148387626 0.00002
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333 0.00002
NM_000090.4(COL3A1):c.4038T>C (p.Pro1346=) rs113753099 0.00002
NM_000090.4(COL3A1):c.432C>T (p.Cys144=) rs539430522 0.00002
NM_000090.4(COL3A1):c.4338C>T (p.Pro1446=) rs376207711 0.00002
NM_000090.4(COL3A1):c.691-8C>G rs749433733 0.00002
NM_000090.4(COL3A1):c.696A>G (p.Glu232=) rs193922177 0.00002
NM_000090.4(COL3A1):c.804C>T (p.Phe268=) rs267599121 0.00002
NM_000090.4(COL3A1):c.969C>T (p.Asp323=) rs779278835 0.00002
NM_000169.3(GLA):c.984G>T (p.Gly328=) rs376623208 0.00002
NM_000314.8(PTEN):c.411A>G (p.Ala137=) rs144545031 0.00002
NM_000314.8(PTEN):c.456A>G (p.Leu152=) rs779626613 0.00002
NM_000314.8(PTEN):c.802-13T>C rs540097879 0.00002
NM_000314.8(PTEN):c.900C>T (p.Ile300=) rs550122918 0.00002
NM_000090.4(COL3A1):c.1050+7_1050+8del rs759415640 0.00001
NM_000090.4(COL3A1):c.1150-4T>G rs756350810 0.00001
NM_000090.4(COL3A1):c.1197T>C (p.Gly399=) rs892020201 0.00001
NM_000090.4(COL3A1):c.1200C>T (p.Pro400=) rs557759394 0.00001
NM_000090.4(COL3A1):c.129T>C (p.Asp43=) rs774591764 0.00001
NM_000090.4(COL3A1):c.1348-4T>C rs756811190 0.00001
NM_000090.4(COL3A1):c.1431G>A (p.Gly477=) rs368765585 0.00001
NM_000090.4(COL3A1):c.1437A>G (p.Pro479=) rs1001916364 0.00001
NM_000090.4(COL3A1):c.1524G>A (p.Glu508=) rs761742677 0.00001
NM_000090.4(COL3A1):c.1545A>G (p.Ala515=) rs1250297410 0.00001
NM_000090.4(COL3A1):c.1581T>C (p.Asp527=) rs890700564 0.00001
NM_000090.4(COL3A1):c.1819C>G (p.Pro607Ala) rs376525602 0.00001
NM_000090.4(COL3A1):c.1872G>A (p.Gly624=) rs372901096 0.00001
NM_000090.4(COL3A1):c.1893C>T (p.Asp631=) rs1171472504 0.00001
NM_000090.4(COL3A1):c.1924-4C>T rs755814664 0.00001
NM_000090.4(COL3A1):c.1978-12C>T rs753526966 0.00001
NM_000090.4(COL3A1):c.2023-15A>G rs764932588 0.00001
NM_000090.4(COL3A1):c.2043T>C (p.Gly681=) rs768133491 0.00001
NM_000090.4(COL3A1):c.204C>T (p.Asp68=) rs368299739 0.00001
NM_000090.4(COL3A1):c.219C>T (p.Asp73=) rs886038228 0.00001
NM_000090.4(COL3A1):c.2554-4A>G rs543263157 0.00001
NM_000090.4(COL3A1):c.2565T>C (p.Gly855=) rs774245587 0.00001
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) rs376643618 0.00001
NM_000090.4(COL3A1):c.2724G>A (p.Ala908=) rs754015151 0.00001
NM_000090.4(COL3A1):c.2766A>C (p.Pro922=) rs915948354 0.00001
NM_000090.4(COL3A1):c.2904G>A (p.Arg968=) rs780866547 0.00001
NM_000090.4(COL3A1):c.3040-12T>C rs757034411 0.00001
NM_000090.4(COL3A1):c.3102T>C (p.Arg1034=) rs1399453028 0.00001
NM_000090.4(COL3A1):c.3114C>T (p.Gly1038=) rs982248094 0.00001
NM_000090.4(COL3A1):c.3321A>G (p.Gly1107=) rs1364238191 0.00001
NM_000090.4(COL3A1):c.334-13A>G rs375137220 0.00001
NM_000090.4(COL3A1):c.3345A>G (p.Pro1115=) rs1045040851 0.00001
NM_000090.4(COL3A1):c.3364-8C>T rs779073034 0.00001
NM_000090.4(COL3A1):c.3418-15A>G rs754815421 0.00001
NM_000090.4(COL3A1):c.3492G>A (p.Gly1164=) rs750595642 0.00001
NM_000090.4(COL3A1):c.3606C>T (p.Ala1202=) rs755573602 0.00001
NM_000090.4(COL3A1):c.3687C>T (p.Ile1229=) rs1246267310 0.00001
NM_000090.4(COL3A1):c.3693C>A (p.Thr1231=) rs368556405 0.00001
NM_000090.4(COL3A1):c.3852A>G (p.Gly1284=) rs1332063006 0.00001
NM_000090.4(COL3A1):c.3859T>C (p.Leu1287=) rs770201950 0.00001
NM_000090.4(COL3A1):c.3975C>T (p.His1325=) rs1167154450 0.00001
NM_000090.4(COL3A1):c.4080C>G (p.Leu1360=) rs771682647 0.00001
NM_000090.4(COL3A1):c.4257A>G (p.Lys1419=) rs754723643 0.00001
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly) rs1415901923 0.00001
NM_000090.4(COL3A1):c.4284C>A (p.Val1428=) rs746436515 0.00001
NM_000090.4(COL3A1):c.507C>T (p.Leu169=) rs142437505 0.00001
NM_000090.4(COL3A1):c.531C>A (p.Gly177=) rs41272797 0.00001
NM_000090.4(COL3A1):c.537A>G (p.Pro179=) rs750191923 0.00001
NM_000090.4(COL3A1):c.621G>A (p.Gly207=) rs779352711 0.00001
NM_000090.4(COL3A1):c.745-7T>C rs776306752 0.00001
NM_000090.4(COL3A1):c.747T>C (p.Gly249=) rs1559054631 0.00001
NM_000090.4(COL3A1):c.759A>G (p.Pro253=) rs376198106 0.00001
NM_000090.4(COL3A1):c.792A>G (p.Gly264=) rs113304344 0.00001
NM_000090.4(COL3A1):c.819A>G (p.Gly273=) rs761106446 0.00001
NM_000090.4(COL3A1):c.84T>C (p.Val28=) rs752574994 0.00001
NM_000090.4(COL3A1):c.891A>C (p.Gly297=) rs751603655 0.00001
NM_000090.4(COL3A1):c.945G>A (p.Gly315=) rs372206736 0.00001
NM_000090.4(COL3A1):c.996A>G (p.Pro332=) rs1229792348 0.00001
NM_000169.3(GLA):c.1095T>C (p.Tyr365=) rs104894849 0.00001
NM_000169.3(GLA):c.1207T>C (p.Leu403=) rs869312239 0.00001
NM_000169.3(GLA):c.133C>T (p.Leu45=) rs143084761 0.00001
NM_000169.3(GLA):c.640-11T>C rs782634293 0.00001
NM_000314.8(PTEN):c.1003C>A (p.Arg335=) rs121909231 0.00001
NM_000314.8(PTEN):c.1062G>A (p.Pro354=) rs786202751 0.00001
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.258A>G (p.Ala86=) rs587780710 0.00001
NM_000314.8(PTEN):c.288A>G (p.Pro96=) rs746661067 0.00001
NM_000314.8(PTEN):c.321T>C (p.Asp107=) rs372876243 0.00001
NM_000314.8(PTEN):c.48T>C (p.Tyr16=) rs587782187 0.00001
NM_000314.8(PTEN):c.606T>C (p.Thr202=) rs1242879806 0.00001
NM_000314.8(PTEN):c.72C>T (p.Asp24=) rs1320222638 0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=) rs774364894 0.00001
NM_000314.8(PTEN):c.750T>C (p.Cys250=) rs767623493 0.00001
NM_000314.8(PTEN):c.75G>A (p.Leu25=) rs786201506 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.80-14A>T rs768354874 0.00001
NM_000314.8(PTEN):c.885A>G (p.Leu295=) rs587780713 0.00001
NM_000314.8(PTEN):c.948A>G (p.Leu316=) rs775997892 0.00001
NM_000090.4(COL3A1):c.1017A>T (p.Gly339=)
NM_000090.4(COL3A1):c.1089T>C (p.Gly363=)
NM_000090.4(COL3A1):c.1092C>T (p.Ala364=)
NM_000090.4(COL3A1):c.1095T>C (p.Pro365=)
NM_000090.4(COL3A1):c.1116A>G (p.Gly372=)
NM_000090.4(COL3A1):c.1150-5C>T
NM_000090.4(COL3A1):c.1150-8A>G
NM_000090.4(COL3A1):c.1152C>T (p.Gly384=) rs1688243975
NM_000090.4(COL3A1):c.1195-5C>T
NM_000090.4(COL3A1):c.123T>C (p.Asp41=) rs770961095
NM_000090.4(COL3A1):c.1257C>G (p.Ala419=)
NM_000090.4(COL3A1):c.1287T>C (p.Gly429=)
NM_000090.4(COL3A1):c.1294-12G>T
NM_000090.4(COL3A1):c.1329C>T (p.Pro443=) rs527291598
NM_000090.4(COL3A1):c.1335A>G (p.Pro445=) rs1193108024
NM_000090.4(COL3A1):c.1337G>A (p.Arg446His) rs149852181
NM_000090.4(COL3A1):c.1348-11T>C rs1334349221
NM_000090.4(COL3A1):c.1416A>G (p.Glu472=)
NM_000090.4(COL3A1):c.1443T>C (p.Ala481=)
NM_000090.4(COL3A1):c.1461C>T (p.Ala487=) rs747522483
NM_000090.4(COL3A1):c.1491T>C (p.Asn497=)
NM_000090.4(COL3A1):c.1509+5A>G rs572863064
NM_000090.4(COL3A1):c.1510-4T>C rs529479786
NM_000090.4(COL3A1):c.1590T>C (p.Pro530=) rs1688293277
NM_000090.4(COL3A1):c.1608+4C>T
NM_000090.4(COL3A1):c.1609-10T>C rs762824449
NM_000090.4(COL3A1):c.1656G>T (p.Gly552=)
NM_000090.4(COL3A1):c.1663-4T>C
NM_000090.4(COL3A1):c.1663-9del rs770372880
NM_000090.4(COL3A1):c.1762-11T>G rs761637298
NM_000090.4(COL3A1):c.1762-6C>T rs2153502785
NM_000090.4(COL3A1):c.1794C>T (p.Gly598=)
NM_000090.4(COL3A1):c.1816-14G>A rs7579815
NM_000090.4(COL3A1):c.1836T>C (p.Gly612=) rs1576467117
NM_000090.4(COL3A1):c.1863G>A (p.Gly621=)
NM_000090.4(COL3A1):c.1870-13_1870-11del rs1312775368
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.4(COL3A1):c.2122-3C>T
NM_000090.4(COL3A1):c.2142G>A (p.Gly714=)
NM_000090.4(COL3A1):c.2238A>G (p.Pro746=) rs1311262989
NM_000090.4(COL3A1):c.2241C>A (p.Gly747=)
NM_000090.4(COL3A1):c.2338-7T>C rs1688463217
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.4(COL3A1):c.2373T>C (p.Ala791=) rs200452382
NM_000090.4(COL3A1):c.2373T>G (p.Ala791=)
NM_000090.4(COL3A1):c.2415T>G (p.Pro805=)
NM_000090.4(COL3A1):c.2433C>T (p.Phe811=) rs1688486002
NM_000090.4(COL3A1):c.2436T>C (p.Pro812=) rs1214826179
NM_000090.4(COL3A1):c.2446-3T>C
NM_000090.4(COL3A1):c.2490G>C (p.Pro830=) rs777361888
NM_000090.4(COL3A1):c.2511C>T (p.Gly837=)
NM_000090.4(COL3A1):c.2554-6A>G rs1688514197
NM_000090.4(COL3A1):c.2601T>C (p.Gly867=)
NM_000090.4(COL3A1):c.2742T>C (p.Pro914=)
NM_000090.4(COL3A1):c.2769A>G (p.Lys923=)
NM_000090.4(COL3A1):c.2824-3T>C
NM_000090.4(COL3A1):c.2835C>T (p.Gly945=)
NM_000090.4(COL3A1):c.2844G>A (p.Gly948=) rs1688537796
NM_000090.4(COL3A1):c.2853G>A (p.Gly951=)
NM_000090.4(COL3A1):c.2982C>A (p.Pro994=)
NM_000090.4(COL3A1):c.2982C>G (p.Pro994=)
NM_000090.4(COL3A1):c.3094-8G>A
NM_000090.4(COL3A1):c.3186T>C (p.Gly1062=)
NM_000090.4(COL3A1):c.3202-15A>G
NM_000090.4(COL3A1):c.3207T>G (p.Pro1069=) rs774148328
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=) rs1060503873
NM_000090.4(COL3A1):c.3256-44A>G
NM_000090.4(COL3A1):c.3256-6C>T
NM_000090.4(COL3A1):c.3390C>A (p.Ile1130=) rs148918486
NM_000090.4(COL3A1):c.3477C>T (p.Pro1159=)
NM_000090.4(COL3A1):c.3516A>G (p.Arg1172=)
NM_000090.4(COL3A1):c.3555C>A (p.Gly1185=)
NM_000090.4(COL3A1):c.3615T>C (p.Ile1205=)
NM_000090.4(COL3A1):c.3654G>A (p.Pro1218=) rs35759441
NM_000090.4(COL3A1):c.3696T>C (p.Asp1232=) rs1332611074
NM_000090.4(COL3A1):c.3873G>A (p.Lys1291=) rs1688690801
NM_000090.4(COL3A1):c.387A>T (p.Pro129=)
NM_000090.4(COL3A1):c.3882T>C (p.Cys1294=) rs1033051824
NM_000090.4(COL3A1):c.3922T>C (p.Leu1308=)
NM_000090.4(COL3A1):c.393C>T (p.Ser131=) rs1688052638
NM_000090.4(COL3A1):c.3984T>C (p.Phe1328=) rs749456336
NM_000090.4(COL3A1):c.399T>G (p.Gly133=)
NM_000090.4(COL3A1):c.402T>G (p.Ser134=) rs2153501486
NM_000090.4(COL3A1):c.4053T>C (p.Asp1351=) rs1016578152
NM_000090.4(COL3A1):c.408C>G (p.Gly136=) rs762388691
NM_000090.4(COL3A1):c.4131A>C (p.Ala1377=) rs560478513
NM_000090.4(COL3A1):c.4194T>C (p.Gly1398=) rs1054676420
NM_000090.4(COL3A1):c.4255-5T>C
NM_000090.4(COL3A1):c.4332T>C (p.Ile1444=) rs1285255181
NM_000090.4(COL3A1):c.4353T>C (p.Gly1451=) rs112729086
NM_000090.4(COL3A1):c.4374G>A (p.Val1458=)
NM_000090.4(COL3A1):c.477T>C (p.Asp159=)
NM_000090.4(COL3A1):c.507C>G (p.Leu169=) rs142437505
NM_000090.4(COL3A1):c.531C>T (p.Gly177=) rs41272797
NM_000090.4(COL3A1):c.546C>A (p.Pro182=) rs754584062
NM_000090.4(COL3A1):c.583-4C>T
NM_000090.4(COL3A1):c.583-7T>C rs886055330
NM_000090.4(COL3A1):c.627T>A (p.Ala209=)
NM_000090.4(COL3A1):c.636A>G (p.Ser212=)
NM_000090.4(COL3A1):c.637-12C>T
NM_000090.4(COL3A1):c.639C>A (p.Gly213=) rs2153501865
NM_000090.4(COL3A1):c.691-15T>C
NM_000090.4(COL3A1):c.80-3C>T
NM_000090.4(COL3A1):c.873C>A (p.Gly291=) rs138569287
NM_000090.4(COL3A1):c.888T>G (p.Pro296=)
NM_000090.4(COL3A1):c.898-8C>T rs766564882
NM_000090.4(COL3A1):c.963T>G (p.Gly321=)
NM_000090.4(COL3A1):c.999C>A (p.Gly333=)
NM_000169.3(GLA):c.1266G>A (p.Gln422=) rs2147470421
NM_000169.3(GLA):c.18A>G (p.Pro6=)
NM_000169.3(GLA):c.237A>G (p.Glu79=) rs2147480859
NM_000169.3(GLA):c.370-12C>T
NM_000169.3(GLA):c.543A>G (p.Ala181=)
NM_000169.3(GLA):c.78C>T (p.Ile26=) rs869312405
NM_000169.3(GLA):c.819T>C (p.Phe273=)
NM_000169.3(GLA):c.972G>A (p.Leu324=)
NM_000314.8(PTEN):c.-14A>C rs755295390
NM_000314.8(PTEN):c.1035G>A (p.Leu345=) rs1564570289
NM_000314.8(PTEN):c.1074G>A (p.Glu358=) rs876659464
NM_000314.8(PTEN):c.1134A>G (p.Arg378=) rs1554826056
NM_000314.8(PTEN):c.1161A>G (p.Pro387=) rs1057523975
NM_000314.8(PTEN):c.1188G>A (p.Gln396=) rs786202062
NM_000314.8(PTEN):c.132C>A (p.Gly44=) rs150651961
NM_000314.8(PTEN):c.144C>T (p.Asn48=) rs762518389
NM_000314.8(PTEN):c.153T>C (p.Asp51=)
NM_000314.8(PTEN):c.180G>A (p.Lys60=) rs972166984
NM_000314.8(PTEN):c.330A>G (p.Gln110=) rs786201929
NM_000314.8(PTEN):c.417A>G (p.Leu139=) rs1057520407
NM_000314.8(PTEN):c.447A>G (p.Gln149=) rs750401982
NM_000314.8(PTEN):c.534T>C (p.Tyr178=) rs104894184
NM_000314.8(PTEN):c.537C>T (p.Ser179=)
NM_000314.8(PTEN):c.54G>A (p.Glu18=) rs1554890388
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.585T>C (p.Phe195=) rs1554900624
NM_000314.8(PTEN):c.618C>T (p.Phe206=) rs786202773
NM_000314.8(PTEN):c.66C>T (p.Asp22=) rs786201335
NM_000314.8(PTEN):c.672A>T (p.Ile224=)
NM_000314.8(PTEN):c.759C>T (p.Ile253=) rs752250585
NM_000314.8(PTEN):c.780A>G (p.Lys260=) rs876658720
NM_000314.8(PTEN):c.909T>A (p.Ile303=) rs878853945
NM_000314.8(PTEN):c.966A>G (p.Lys322=) rs786201392
NM_000314.8(PTEN):c.96T>C (p.Ile32=)

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