ClinVar Miner

List of variants studied for Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 342
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HGVS dbSNP gnomAD frequency
NM_014476.6(PDLIM3):c.906C>T (p.Val302=) rs4635850 0.69865
NM_014476.6(PDLIM3):c.906-18C>T rs12644280 0.12920
NM_014476.6(PDLIM3):c.379G>A (p.Val127Met) rs11944325 0.02959
NM_014476.6(PDLIM3):c.678G>A (p.Ser226=) rs34943562 0.02917
NM_014476.6(PDLIM3):c.42C>T (p.Gly14=) rs116775669 0.02423
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile) rs62347360 0.01871
NM_014476.6(PDLIM3):c.831G>A (p.Pro277=) rs61734674 0.00997
NM_014476.6(PDLIM3):c.849C>T (p.Gly283=) rs61734675 0.00785
NM_014476.6(PDLIM3):c.162C>T (p.Gly54=) rs112661328 0.00697
NM_014476.6(PDLIM3):c.60C>A (p.Gly20=) rs113792127 0.00163
NM_014476.6(PDLIM3):c.993C>A (p.Gly331=) rs139493914 0.00138
NM_014476.6(PDLIM3):c.387G>A (p.Pro129=) rs138670107 0.00111
NM_014476.6(PDLIM3):c.663-16C>T rs527271064 0.00040
NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn) rs142143310 0.00040
NM_014476.6(PDLIM3):c.195G>A (p.Ala65=) rs148570356 0.00036
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala) rs142951316 0.00031
NM_014476.6(PDLIM3):c.963C>T (p.Ala321=) rs148518020 0.00028
NM_014476.6(PDLIM3):c.331-16C>T rs200663921 0.00027
NM_014476.6(PDLIM3):c.29C>T (p.Pro10Leu) rs146768859 0.00026
NM_014476.6(PDLIM3):c.1053C>T (p.Pro351=) rs369891118 0.00017
NM_014476.6(PDLIM3):c.663-15G>A rs561379714 0.00017
NM_014476.6(PDLIM3):c.399-18G>A rs372273108 0.00016
NM_014476.6(PDLIM3):c.697G>C (p.Val233Leu) rs143121072 0.00016
NM_014476.6(PDLIM3):c.399-10A>G rs199979457 0.00015
NM_014476.6(PDLIM3):c.683C>T (p.Pro228Leu) rs201185673 0.00014
NM_014476.6(PDLIM3):c.896G>A (p.Ser299Asn) rs143812960 0.00014
NM_014476.6(PDLIM3):c.246G>A (p.Arg82=) rs200354645 0.00013
NM_014476.6(PDLIM3):c.696C>T (p.Asp232=) rs148256486 0.00013
NM_014476.6(PDLIM3):c.330+6C>T rs373377356 0.00008
NM_014476.6(PDLIM3):c.399-19C>T rs201237568 0.00008
NM_014476.6(PDLIM3):c.399-4A>G rs187859259 0.00007
NM_014476.6(PDLIM3):c.333C>T (p.Asp111=) rs549674569 0.00006
NM_014476.6(PDLIM3):c.375T>C (p.Pro125=) rs372840074 0.00006
NM_014476.6(PDLIM3):c.54A>G (p.Ser18=) rs768654855 0.00006
NM_014476.6(PDLIM3):c.928G>A (p.Asp310Asn) rs146092339 0.00006
NM_014476.6(PDLIM3):c.1024G>A (p.Glu342Lys) rs368815493 0.00005
NM_014476.6(PDLIM3):c.1032C>T (p.His344=) rs200734614 0.00005
NM_014476.6(PDLIM3):c.240T>C (p.Ile80=) rs376278294 0.00005
NM_014476.6(PDLIM3):c.266C>G (p.Ser89Cys) rs1178485427 0.00005
NM_014476.6(PDLIM3):c.530A>C (p.Glu177Ala) rs138115202 0.00005
NM_014476.6(PDLIM3):c.677C>T (p.Ser226Leu) rs747243505 0.00005
NM_014476.6(PDLIM3):c.93+16C>A rs557718466 0.00005
NM_014476.6(PDLIM3):c.1043G>A (p.Arg348His) rs764823333 0.00004
NM_014476.6(PDLIM3):c.11C>T (p.Thr4Met) rs781358846 0.00004
NM_014476.6(PDLIM3):c.414C>T (p.Pro138=) rs553881498 0.00004
NM_014476.6(PDLIM3):c.597T>A (p.Asp199Glu) rs1064796959 0.00004
NM_014476.6(PDLIM3):c.722G>A (p.Arg241Gln) rs775988516 0.00004
NM_014476.6(PDLIM3):c.749C>T (p.Ser250Leu) rs781084216 0.00004
NM_014476.6(PDLIM3):c.858C>T (p.Gly286=) rs151318437 0.00004
NM_014476.6(PDLIM3):c.906-17G>A rs199828661 0.00004
NM_014476.6(PDLIM3):c.955G>A (p.Val319Met) rs756047162 0.00004
NM_014476.6(PDLIM3):c.1007A>G (p.Glu336Gly) rs747338250 0.00003
NM_014476.6(PDLIM3):c.1033G>A (p.Ala345Thr) rs373408599 0.00003
NM_014476.6(PDLIM3):c.1037G>A (p.Arg346Lys) rs762986959 0.00003
NM_014476.6(PDLIM3):c.113C>T (p.Ala38Val) rs182803361 0.00003
NM_014476.6(PDLIM3):c.168G>A (p.Gly56=) rs151119100 0.00003
NM_014476.6(PDLIM3):c.177_178dup (p.Met60fs) rs199476399 0.00003
NM_014476.6(PDLIM3):c.257A>G (p.His86Arg) rs577853473 0.00003
NM_014476.6(PDLIM3):c.330+7G>A rs369445862 0.00003
NM_014476.6(PDLIM3):c.331G>C (p.Asp111His) rs143725812 0.00003
NM_014476.6(PDLIM3):c.346G>C (p.Glu116Gln) rs769389710 0.00003
NM_014476.6(PDLIM3):c.386C>T (p.Pro129Leu) rs1418573250 0.00003
NM_014476.6(PDLIM3):c.40G>A (p.Gly14Ser) rs150125560 0.00003
NM_014476.6(PDLIM3):c.417C>T (p.Ser139=) rs200230349 0.00003
NM_014476.6(PDLIM3):c.439C>T (p.Arg147Cys) rs769851440 0.00003
NM_014476.6(PDLIM3):c.440G>A (p.Arg147His) rs528843301 0.00003
NM_014476.6(PDLIM3):c.485G>A (p.Gly162Asp) rs1346987136 0.00003
NM_014476.6(PDLIM3):c.547G>C (p.Val183Leu) rs765318874 0.00003
NM_014476.6(PDLIM3):c.693G>A (p.Ser231=) rs756066114 0.00003
NM_014476.6(PDLIM3):c.750G>A (p.Ser250=) rs146946948 0.00003
NM_014476.6(PDLIM3):c.812C>T (p.Thr271Met) rs764497554 0.00003
NM_014476.6(PDLIM3):c.836C>T (p.Thr279Met) rs150070443 0.00003
NM_014476.6(PDLIM3):c.964G>A (p.Asp322Asn) rs774470984 0.00003
NM_014476.6(PDLIM3):c.114G>A (p.Ala38=) rs377383830 0.00002
NM_014476.6(PDLIM3):c.152C>T (p.Ala51Val) rs755994888 0.00002
NM_014476.6(PDLIM3):c.160G>A (p.Gly54Ser) rs754889669 0.00002
NM_014476.6(PDLIM3):c.278C>G (p.Ser93Cys) rs373657946 0.00002
NM_014476.6(PDLIM3):c.476T>A (p.Ile159Asn) rs730880177 0.00002
NM_014476.6(PDLIM3):c.501G>A (p.Ala167=) rs142771915 0.00002
NM_014476.6(PDLIM3):c.588G>A (p.Leu196=) rs760087085 0.00002
NM_014476.6(PDLIM3):c.663-18G>A rs771341523 0.00002
NM_014476.6(PDLIM3):c.703C>T (p.Arg235Trp) rs751273771 0.00002
NM_014476.6(PDLIM3):c.704G>A (p.Arg235Gln) rs765915778 0.00002
NM_014476.6(PDLIM3):c.803C>T (p.Pro268Leu) rs1188446991 0.00002
NM_014476.6(PDLIM3):c.804G>A (p.Pro268=) rs141129783 0.00002
NM_014476.6(PDLIM3):c.830C>T (p.Pro277Leu) rs1384878275 0.00002
NM_014476.6(PDLIM3):c.861G>A (p.Gly287=) rs764585438 0.00002
NM_014476.6(PDLIM3):c.917T>C (p.Val306Ala) rs771699213 0.00002
NM_014476.6(PDLIM3):c.91A>G (p.Arg31Gly) rs758667413 0.00002
NM_014476.6(PDLIM3):c.924G>A (p.Ala308=) rs558471910 0.00002
NM_014476.6(PDLIM3):c.937C>T (p.Arg313Trp) rs144286715 0.00002
NM_014476.6(PDLIM3):c.938G>A (p.Arg313Gln) rs755255012 0.00002
NM_014476.6(PDLIM3):c.94-14A>G rs1489060519 0.00002
NM_014476.6(PDLIM3):c.1042C>T (p.Arg348Cys) rs772981250 0.00001
NM_014476.6(PDLIM3):c.1060G>A (p.Gly354Ser) rs2095688353 0.00001
NM_014476.6(PDLIM3):c.1063T>C (p.Tyr355His) rs1173227868 0.00001
NM_014476.6(PDLIM3):c.1070C>T (p.Thr357Met) rs775841507 0.00001
NM_014476.6(PDLIM3):c.1071G>A (p.Thr357=) rs772388695 0.00001
NM_014476.6(PDLIM3):c.1078C>T (p.Leu360=) rs974220815 0.00001
NM_014476.6(PDLIM3):c.1082A>G (p.Tyr361Cys) rs779267023 0.00001
NM_014476.6(PDLIM3):c.127C>G (p.Leu43Val) rs1232029998 0.00001
NM_014476.6(PDLIM3):c.141T>A (p.Asp47Glu) rs778943215 0.00001
NM_014476.6(PDLIM3):c.14T>C (p.Val5Ala) rs751837590 0.00001
NM_014476.6(PDLIM3):c.154A>G (p.Ile52Val) rs752432016 0.00001
NM_014476.6(PDLIM3):c.159C>T (p.Asp53=) rs781147581 0.00001
NM_014476.6(PDLIM3):c.178A>C (p.Met60Leu) rs764788096 0.00001
NM_014476.6(PDLIM3):c.194C>T (p.Ala65Val) rs769091239 0.00001
NM_014476.6(PDLIM3):c.222C>G (p.His74Gln) rs2095730589 0.00001
NM_014476.6(PDLIM3):c.243C>G (p.Asp81Glu) rs1191199211 0.00001
NM_014476.6(PDLIM3):c.258C>T (p.His86=) rs1189554604 0.00001
NM_014476.6(PDLIM3):c.262T>C (p.Trp88Arg) rs1561200671 0.00001
NM_014476.6(PDLIM3):c.268C>G (p.Pro90Ala) rs1355493976 0.00001
NM_014476.6(PDLIM3):c.273A>G (p.Gln91=) rs777908111 0.00001
NM_014476.6(PDLIM3):c.317A>C (p.Glu106Ala) rs199476400 0.00001
NM_014476.6(PDLIM3):c.319T>C (p.Ser107Pro) rs1448422407 0.00001
NM_014476.6(PDLIM3):c.331-15G>A rs771774420 0.00001
NM_014476.6(PDLIM3):c.331-1G>A rs745661778 0.00001
NM_014476.6(PDLIM3):c.334G>A (p.Gly112Arg) rs777447396 0.00001
NM_014476.6(PDLIM3):c.354G>C (p.Lys118Asn) rs1295481759 0.00001
NM_014476.6(PDLIM3):c.359A>G (p.Asn120Ser) rs2095711296 0.00001
NM_014476.6(PDLIM3):c.398+9C>T rs761820729 0.00001
NM_014476.6(PDLIM3):c.399-8T>G rs1301395755 0.00001
NM_014476.6(PDLIM3):c.408C>T (p.Ser136=) rs764271627 0.00001
NM_014476.6(PDLIM3):c.418G>A (p.Gly140Arg) rs762780442 0.00001
NM_014476.6(PDLIM3):c.422T>C (p.Ile141Thr) rs773342819 0.00001
NM_014476.6(PDLIM3):c.465T>C (p.Thr155=) rs2095701642 0.00001
NM_014476.6(PDLIM3):c.475A>G (p.Ile159Val) rs779435259 0.00001
NM_014476.6(PDLIM3):c.47G>T (p.Arg16Met) rs758987751 0.00001
NM_014476.6(PDLIM3):c.511G>A (p.Ala171Thr) rs878854982 0.00001
NM_014476.6(PDLIM3):c.567G>A (p.Gln189=) rs776361335 0.00001
NM_014476.6(PDLIM3):c.594A>G (p.Ser198=) rs200841741 0.00001
NM_014476.6(PDLIM3):c.608T>C (p.Met203Thr) rs774719040 0.00001
NM_014476.6(PDLIM3):c.662+7T>C rs1580239101 0.00001
NM_014476.6(PDLIM3):c.663-19C>T rs773926861 0.00001
NM_014476.6(PDLIM3):c.663-1G>A rs748290083 0.00001
NM_014476.6(PDLIM3):c.664G>A (p.Glu222Lys) rs768821275 0.00001
NM_014476.6(PDLIM3):c.66C>T (p.Asp22=) rs770008147 0.00001
NM_014476.6(PDLIM3):c.687C>T (p.Pro229=) rs753543916 0.00001
NM_014476.6(PDLIM3):c.692C>T (p.Ser231Leu) rs777812739 0.00001
NM_014476.6(PDLIM3):c.705G>C (p.Arg235=) rs763439352 0.00001
NM_014476.6(PDLIM3):c.706A>C (p.Met236Leu) rs773433295 0.00001
NM_014476.6(PDLIM3):c.711C>G (p.Leu237=) rs1280400272 0.00001
NM_014476.6(PDLIM3):c.714C>T (p.His238=) rs762410947 0.00001
NM_014476.6(PDLIM3):c.725A>G (p.Asn242Ser) rs780392840 0.00001
NM_014476.6(PDLIM3):c.727G>A (p.Glu243Lys) rs1306620317 0.00001
NM_014476.6(PDLIM3):c.731C>A (p.Pro244His) rs374935162 0.00001
NM_014476.6(PDLIM3):c.763G>C (p.Val255Leu) rs1254946691 0.00001
NM_014476.6(PDLIM3):c.778G>A (p.Val260Met) rs878854983 0.00001
NM_014476.6(PDLIM3):c.783C>T (p.Asp261=) rs201775052 0.00001
NM_014476.6(PDLIM3):c.784G>A (p.Asp262Asn) rs750021846 0.00001
NM_014476.6(PDLIM3):c.799C>T (p.Arg267Cys) rs373419233 0.00001
NM_014476.6(PDLIM3):c.800G>A (p.Arg267His) rs539118406 0.00001
NM_014476.6(PDLIM3):c.815G>A (p.Arg272Gln) rs767518283 0.00001
NM_014476.6(PDLIM3):c.847G>A (p.Gly283Ser) rs779988849 0.00001
NM_014476.6(PDLIM3):c.879C>T (p.Leu293=) rs766386102 0.00001
NM_014476.6(PDLIM3):c.887A>T (p.Lys296Ile) rs763164171 0.00001
NM_014476.6(PDLIM3):c.894G>C (p.Gly298=) rs951740054 0.00001
NM_014476.6(PDLIM3):c.895A>C (p.Ser299Arg) rs1034968896 0.00001
NM_014476.6(PDLIM3):c.899G>A (p.Gly300Asp) rs745737342 0.00001
NM_014476.6(PDLIM3):c.905+10A>G rs1250327271 0.00001
NM_014476.6(PDLIM3):c.905+18C>G rs778572675 0.00001
NM_014476.6(PDLIM3):c.906-2A>G rs1226939307 0.00001
NM_014476.6(PDLIM3):c.911C>G (p.Ala304Gly) rs1210309583 0.00001
NM_014476.6(PDLIM3):c.913G>A (p.Val305Met) rs1326853948 0.00001
NM_014476.6(PDLIM3):c.923C>T (p.Ala308Val) rs774383499 0.00001
NM_014476.6(PDLIM3):c.926G>A (p.Arg309Gln) rs200273032 0.00001
NM_014476.6(PDLIM3):c.94-7C>A rs1259309539 0.00001
NM_014476.6(PDLIM3):c.975C>T (p.Leu325=) rs2095688579 0.00001
NM_014476.6(PDLIM3):c.979C>G (p.Leu327Val) rs1228328230 0.00001
NC_000004.11:g.(?_186064507)_(186436064_?)dup
NC_000004.11:g.(?_186387457)_(186429460_?)del
NC_000004.11:g.(?_186387458)_(186429460_?)del
NC_000004.11:g.(?_186420814)_(186457712_?)dup
NC_000004.11:g.(?_186423428)_(186456608_?)dup
NC_000004.11:g.(?_186423442)_(186456594_?)del
NC_000004.11:g.(?_186423442)_(186456594_?)dup
NC_000004.11:g.(?_186423448)_(186456588_?)del
NC_000004.11:g.(?_186423448)_(186456588_?)dup
NC_000004.11:g.(?_186427656)_(186429736_?)del
NC_000004.11:g.(?_186444496)_(186456588_?)dup
NC_000004.12:g.(?_185143353)_(185535454_?)del
NC_000004.12:g.(?_185500650)_(185535568_?)dup
NC_000004.12:g.(?_185502274)_(185506672_?)del
NC_000004.12:g.(?_185523352)_(185535568_?)del
NC_000004.12:g.(?_185523352)_(185535568_?)dup
NM_001114107.5(PDLIM3):c.519-1906_519-1871del
NM_014476.5(PDLIM3):c.-124_*1634dup2853
NM_014476.5(PDLIM3):c.-124_330+?dup454
NM_014476.6(PDLIM3):c.-21_9del (p.Met1_Gln3del)
NM_014476.6(PDLIM3):c.1027A>G (p.Thr343Ala) rs569673500
NM_014476.6(PDLIM3):c.1033G>C (p.Ala345Pro) rs373408599
NM_014476.6(PDLIM3):c.1035A>G (p.Ala345=) rs1225555613
NM_014476.6(PDLIM3):c.1040C>T (p.Ala347Val) rs1179953014
NM_014476.6(PDLIM3):c.1043G>T (p.Arg348Leu) rs764823333
NM_014476.6(PDLIM3):c.1054C>T (p.Pro352Ser)
NM_014476.6(PDLIM3):c.1069A>G (p.Thr357Ala) rs920811532
NM_014476.6(PDLIM3):c.1072G>A (p.Val358Ile) rs1554037057
NM_014476.6(PDLIM3):c.107G>A (p.Ser36Asn) rs2095730997
NM_014476.6(PDLIM3):c.1095A>G (p.Ter365=) rs2095688280
NM_014476.6(PDLIM3):c.10A>C (p.Thr4Pro) rs1000933182
NM_014476.6(PDLIM3):c.118G>A (p.Ala40Thr)
NM_014476.6(PDLIM3):c.131G>A (p.Cys44Tyr) rs2095730947
NM_014476.6(PDLIM3):c.138A>C (p.Gly46=) rs2478428181
NM_014476.6(PDLIM3):c.161G>A (p.Gly54Asp) rs2478427933
NM_014476.6(PDLIM3):c.171A>G (p.Thr57=)
NM_014476.6(PDLIM3):c.177C>T (p.Ser59=)
NM_014476.6(PDLIM3):c.17T>A (p.Ile6Asn) rs372538185
NM_014476.6(PDLIM3):c.195G>T (p.Ala65=) rs148570356
NM_014476.6(PDLIM3):c.19del (p.Leu7fs) rs2478479880
NM_014476.6(PDLIM3):c.210A>C (p.Lys70Asn) rs2478427409
NM_014476.6(PDLIM3):c.23C>T (p.Pro8Leu) rs572128606
NM_014476.6(PDLIM3):c.246-19A>G rs2478417388
NM_014476.6(PDLIM3):c.246-9T>C rs2153337858
NM_014476.6(PDLIM3):c.246-9_246-5del rs765292127
NM_014476.6(PDLIM3):c.25G>A (p.Gly9Ser) rs2095752062
NM_014476.6(PDLIM3):c.260T>A (p.Leu87Ter)
NM_014476.6(PDLIM3):c.260dup (p.Leu87fs) rs2153337850
NM_014476.6(PDLIM3):c.261A>G (p.Leu87=) rs2153337849
NM_014476.6(PDLIM3):c.264G>T (p.Trp88Cys) rs770996211
NM_014476.6(PDLIM3):c.269C>T (p.Pro90Leu) rs2478417037
NM_014476.6(PDLIM3):c.270A>G (p.Pro90=)
NM_014476.6(PDLIM3):c.318del (p.Glu106fs) rs2095726024
NM_014476.6(PDLIM3):c.319_324del (p.Ser107_Glu108del) rs1271496113
NM_014476.6(PDLIM3):c.330+2T>C
NM_014476.6(PDLIM3):c.344T>A (p.Phe115Tyr) rs1259450618
NM_014476.6(PDLIM3):c.347A>C (p.Glu116Ala) rs2478376624
NM_014476.6(PDLIM3):c.364C>T (p.Arg122Trp) rs755359056
NM_014476.6(PDLIM3):c.373C>T (p.Pro125Ser)
NM_014476.6(PDLIM3):c.378C>T (p.Phe126=)
NM_014476.6(PDLIM3):c.379G>T (p.Val127Leu)
NM_014476.6(PDLIM3):c.388G>A (p.Gly130Ser) rs2095711219
NM_014476.6(PDLIM3):c.398+12T>A rs181339407
NM_014476.6(PDLIM3):c.398+12T>C rs181339407
NM_014476.6(PDLIM3):c.398+15G>A rs1259024974
NM_014476.6(PDLIM3):c.398+5T>G rs2153335451
NM_014476.6(PDLIM3):c.398+8G>A rs1215013585
NM_014476.6(PDLIM3):c.399-12C>G
NM_014476.6(PDLIM3):c.399-17dup rs1176465439
NM_014476.6(PDLIM3):c.399-3_399-2del rs772601097
NM_014476.6(PDLIM3):c.399-4A>C
NM_014476.6(PDLIM3):c.399-9T>C rs2153333102
NM_014476.6(PDLIM3):c.3G>A (p.Met1Ile) rs1032380240
NM_014476.6(PDLIM3):c.417C>A (p.Ser139=) rs200230349
NM_014476.6(PDLIM3):c.422T>A (p.Ile141Asn)
NM_014476.6(PDLIM3):c.434G>A (p.Ser145Asn) rs2478343616
NM_014476.6(PDLIM3):c.474C>A (p.Thr158=)
NM_014476.6(PDLIM3):c.474C>T (p.Thr158=) rs746224592
NM_014476.6(PDLIM3):c.4C>A (p.Pro2Thr) rs1224883567
NM_014476.6(PDLIM3):c.500C>T (p.Ala167Val) rs371228193
NM_014476.6(PDLIM3):c.503C>T (p.Ala168Val) rs2478342600
NM_014476.6(PDLIM3):c.505A>G (p.Lys169Glu) rs2478342569
NM_014476.6(PDLIM3):c.512C>G (p.Ala171Gly) rs1580239536
NM_014476.6(PDLIM3):c.533T>C (p.Met178Thr) rs566270712
NM_014476.6(PDLIM3):c.537A>G (p.Glu179=) rs750215417
NM_014476.6(PDLIM3):c.547G>T (p.Val183Leu) rs765318874
NM_014476.6(PDLIM3):c.552G>C (p.Lys184Asn) rs1447674398
NM_014476.6(PDLIM3):c.554T>C (p.Ile185Thr) rs2095701355
NM_014476.6(PDLIM3):c.558A>G (p.Val186=) rs2153332982
NM_014476.6(PDLIM3):c.563C>A (p.Ala188Asp) rs1370714820
NM_014476.6(PDLIM3):c.56G>C (p.Gly19Ala) rs2095751946
NM_014476.6(PDLIM3):c.570T>G (p.Phe190Leu) rs369885925
NM_014476.6(PDLIM3):c.579T>C (p.Pro193=) rs1195252662
NM_014476.6(PDLIM3):c.586T>C (p.Leu196=)
NM_014476.6(PDLIM3):c.58G>T (p.Gly20Cys) rs1305441463
NM_014476.6(PDLIM3):c.594A>C (p.Ser198=)
NM_014476.6(PDLIM3):c.602A>G (p.Asn201Ser) rs2478341578
NM_014476.6(PDLIM3):c.604A>G (p.Ile202Val)
NM_014476.6(PDLIM3):c.629T>C (p.Val210Ala) rs2478341355
NM_014476.6(PDLIM3):c.63del (p.Ile21fs) rs2478479227
NM_014476.6(PDLIM3):c.652C>A (p.Pro218Thr)
NM_014476.6(PDLIM3):c.657G>T (p.Leu219Phe) rs1561192175
NM_014476.6(PDLIM3):c.659T>A (p.Met220Lys) rs375743721
NM_014476.6(PDLIM3):c.662G>T (p.Ser221Ile) rs2478341006
NM_014476.6(PDLIM3):c.663-15_663-11dup
NM_014476.6(PDLIM3):c.663C>T (p.Ser221=) rs781448134
NM_014476.6(PDLIM3):c.664G>T (p.Glu222Ter) rs768821275
NM_014476.6(PDLIM3):c.667C>A (p.Pro223Thr) rs2095697972
NM_014476.6(PDLIM3):c.672A>T (p.Thr224=) rs1225480796
NM_014476.6(PDLIM3):c.673del (p.Ala225fs) rs1340878938
NM_014476.6(PDLIM3):c.674C>G (p.Ala225Gly) rs2153332393
NM_014476.6(PDLIM3):c.67T>C (p.Phe23Leu) rs748724098
NM_014476.6(PDLIM3):c.688G>C (p.Glu230Gln)
NM_014476.6(PDLIM3):c.696C>G (p.Asp232Glu) rs148256486
NM_014476.6(PDLIM3):c.697G>A (p.Val233Met) rs143121072
NM_014476.6(PDLIM3):c.697G>T (p.Val233Leu) rs143121072
NM_014476.6(PDLIM3):c.703C>G (p.Arg235Gly) rs751273771
NM_014476.6(PDLIM3):c.716A>G (p.Asp239Gly) rs2478331221
NM_014476.6(PDLIM3):c.73C>T (p.Gln25Ter) rs781486882
NM_014476.6(PDLIM3):c.751G>A (p.Gly251Ser)
NM_014476.6(PDLIM3):c.779T>G (p.Val260Gly) rs1554037747
NM_014476.6(PDLIM3):c.780G>A (p.Val260=) rs2153332313
NM_014476.6(PDLIM3):c.794-14G>C rs1164843057
NM_014476.6(PDLIM3):c.794-15C>T rs757881954
NM_014476.6(PDLIM3):c.794-9_794-6del rs2478321830
NM_014476.6(PDLIM3):c.794A>G (p.Asp265Gly) rs750061720
NM_014476.6(PDLIM3):c.802C>A (p.Pro268Thr) rs542630585
NM_014476.6(PDLIM3):c.805del (p.Ala269fs) rs772607770
NM_014476.6(PDLIM3):c.818G>A (p.Ser273Asn) rs759639015
NM_014476.6(PDLIM3):c.822G>A (p.Val274=) rs1580233408
NM_014476.6(PDLIM3):c.834G>A (p.Val278=) rs2478321366
NM_014476.6(PDLIM3):c.836C>A (p.Thr279Lys) rs150070443
NM_014476.6(PDLIM3):c.837G>A (p.Thr279=) rs199895839
NM_014476.6(PDLIM3):c.837G>C (p.Thr279=) rs199895839
NM_014476.6(PDLIM3):c.843C>A (p.Val281=) rs1463970960
NM_014476.6(PDLIM3):c.845A>G (p.His282Arg) rs2478321190
NM_014476.6(PDLIM3):c.850G>A (p.Gly284Ser) rs574011141
NM_014476.6(PDLIM3):c.851G>A (p.Gly284Asp) rs778768787
NM_014476.6(PDLIM3):c.854C>A (p.Ser285Ter)
NM_014476.6(PDLIM3):c.857_870del (p.Gly286fs) rs2478320785
NM_014476.6(PDLIM3):c.861G>T (p.Gly287=) rs764585438
NM_014476.6(PDLIM3):c.869G>A (p.Arg290Lys) rs2095693278
NM_014476.6(PDLIM3):c.875C>G (p.Pro292Arg) rs200921332
NM_014476.6(PDLIM3):c.875C>T (p.Pro292Leu) rs200921332
NM_014476.6(PDLIM3):c.876G>A (p.Pro292=) rs751623400
NM_014476.6(PDLIM3):c.882_883del (p.Cys294_Asp295delinsTer) rs2095693247
NM_014476.6(PDLIM3):c.890G>A (p.Cys297Tyr) rs768354891
NM_014476.6(PDLIM3):c.893G>A (p.Gly298Glu) rs775360491
NM_014476.6(PDLIM3):c.8A>G (p.Gln3Arg) rs1227606973
NM_014476.6(PDLIM3):c.906-4A>G rs2095688804
NM_014476.6(PDLIM3):c.906-7C>G rs2153330636
NM_014476.6(PDLIM3):c.906-8C>T rs2095688809
NM_014476.6(PDLIM3):c.906-9C>G
NM_014476.6(PDLIM3):c.908G>T (p.Gly303Val) rs2095688770
NM_014476.6(PDLIM3):c.916G>A (p.Val306Met) rs1561187562
NM_014476.6(PDLIM3):c.925C>A (p.Arg309=) rs483352737
NM_014476.6(PDLIM3):c.92G>C (p.Arg31Thr) rs2095751828
NM_014476.6(PDLIM3):c.93+13A>C rs2478478817
NM_014476.6(PDLIM3):c.93+2_93+4del rs2153340587
NM_014476.6(PDLIM3):c.93+7G>A
NM_014476.6(PDLIM3):c.93+9C>A rs961788900
NM_014476.6(PDLIM3):c.93+9C>G rs961788900
NM_014476.6(PDLIM3):c.94-11A>T rs2478428511
NM_014476.6(PDLIM3):c.946G>A (p.Glu316Lys) rs2478308963
NM_014476.6(PDLIM3):c.954C>G (p.Phe318Leu) rs757507673
NM_014476.6(PDLIM3):c.954C>T (p.Phe318=) rs757507673
NM_014476.6(PDLIM3):c.955G>C (p.Val319Leu) rs756047162
NM_014476.6(PDLIM3):c.956T>C (p.Val319Ala) rs2478308867
NM_014476.6(PDLIM3):c.963C>A (p.Ala321=) rs148518020
NM_014476.6(PDLIM3):c.964G>T (p.Asp322Tyr) rs774470984
NM_014476.6(PDLIM3):c.978C>G (p.Asn326Lys)
NM_014476.6(PDLIM3):c.989A>C (p.Lys330Thr) rs1433516310
NM_014476.6(PDLIM3):c.992G>T (p.Gly331Val) rs1060500600

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