ClinVar Miner

List of variants in gene PDLIM3 studied for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 279
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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 0.12748
NM_014476.6(PDLIM3):c.678G>A (p.Ser226=) rs34943562 0.03158
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 0.00729
NM_014476.6(PDLIM3):c.60C>A (p.Gly20=) rs113792127 0.00163
NM_014476.6(PDLIM3):c.993C>A (p.Gly331=) rs139493914 0.00153
NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn) rs142143310 0.00046
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala) rs142951316 0.00031
NM_014476.6(PDLIM3):c.195G>A (p.Ala65=) rs148570356 0.00029
NM_014476.6(PDLIM3):c.963C>T (p.Ala321=) rs148518020 0.00029
NM_014476.6(PDLIM3):c.1053C>T (p.Pro351=) rs369891118 0.00019
NM_014476.6(PDLIM3):c.29C>T (p.Pro10Leu) rs146768859 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.896G>A (p.Ser299Asn) rs143812960 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.696C>T (p.Asp232=) rs148256486 0.00013
NM_014476.6(PDLIM3):c.246G>A (p.Arg82=) rs200354645 0.00011
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.54A>G (p.Ser18=) rs768654855 0.00006
NM_014476.6(PDLIM3):c.677C>T (p.Ser226Leu) rs747243505 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.240T>C (p.Ile80=) rs376278294 0.00005
NM_014476.6(PDLIM3):c.530A>C (p.Glu177Ala) rs138115202 0.00005
NM_014476.6(PDLIM3):c.1032C>T (p.His344=) rs200734614 0.00004
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.168G>A (p.Gly56=) rs151119100 0.00004
NM_014476.6(PDLIM3):c.547G>C (p.Val183Leu) rs765318874 0.00004
NM_014476.6(PDLIM3):c.597T>A (p.Asp199Glu) rs1064796959 0.00004
NM_014476.6(PDLIM3):c.693G>A (p.Ser231=) rs756066114 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.177_178dup (p.Met60fs) rs199476399 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.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.160G>A (p.Gly54Ser) rs754889669 0.00002
NM_014476.6(PDLIM3):c.278C>G (p.Ser93Cys) rs373657946 0.00002
NM_014476.6(PDLIM3):c.330+7G>A rs369445862 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.663-16C>T rs527271064 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.861G>A (p.Gly287=) rs764585438 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.1042C>T (p.Arg348Cys) rs772981250 0.00001
NM_014476.6(PDLIM3):c.1060G>A (p.Gly354Ser) rs2095688353 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.1082A>G (p.Tyr361Cys) rs779267023 0.00001
NM_014476.6(PDLIM3):c.113C>T (p.Ala38Val) rs182803361 0.00001
NM_014476.6(PDLIM3):c.152C>T (p.Ala51Val) rs755994888 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.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.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.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.662+7T>C rs1580239101 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.711C>G (p.Leu237=) rs1280400272 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.743G>A (p.Arg248His) rs377158204 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.799C>T (p.Arg267Cys) rs373419233 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.894G>C (p.Gly298=) rs951740054 0.00001
NM_014476.6(PDLIM3):c.895A>C (p.Ser299Arg) rs1034968896 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.913G>A (p.Val305Met) rs1326853948 0.00001
NM_014476.6(PDLIM3):c.924G>A (p.Ala308=) rs558471910 0.00001
NM_014476.6(PDLIM3):c.926G>A (p.Arg309Gln) rs200273032 0.00001
NC_000004.11:g.(?_186420814)_(186457712_?)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.(?_186444496)_(186456588_?)dup
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_330+?dup454
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=)
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.1063T>C (p.Tyr355His)
NM_014476.6(PDLIM3):c.1069A>G (p.Thr357Ala)
NM_014476.6(PDLIM3):c.1072G>A (p.Val358Ile) rs1554037057
NM_014476.6(PDLIM3):c.1078C>T (p.Leu360=) rs974220815
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)
NM_014476.6(PDLIM3):c.127C>G (p.Leu43Val)
NM_014476.6(PDLIM3):c.131G>A (p.Cys44Tyr) rs2095730947
NM_014476.6(PDLIM3):c.138A>C (p.Gly46=)
NM_014476.6(PDLIM3):c.141T>A (p.Asp47Glu) rs778943215
NM_014476.6(PDLIM3):c.14T>C (p.Val5Ala)
NM_014476.6(PDLIM3):c.161G>A (p.Gly54Asp)
NM_014476.6(PDLIM3):c.17T>A (p.Ile6Asn)
NM_014476.6(PDLIM3):c.195G>T (p.Ala65=)
NM_014476.6(PDLIM3):c.19del (p.Leu7fs)
NM_014476.6(PDLIM3):c.210A>C (p.Lys70Asn)
NM_014476.6(PDLIM3):c.222C>G (p.His74Gln)
NM_014476.6(PDLIM3):c.23C>T (p.Pro8Leu)
NM_014476.6(PDLIM3):c.246-19A>G
NM_014476.6(PDLIM3):c.246-9T>C rs2153337858
NM_014476.6(PDLIM3):c.246-9_246-5del rs765292127
NM_014476.6(PDLIM3):c.257A>G (p.His86Arg)
NM_014476.6(PDLIM3):c.25G>A (p.Gly9Ser) rs2095752062
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.266C>G (p.Ser89Cys)
NM_014476.6(PDLIM3):c.269C>T (p.Pro90Leu)
NM_014476.6(PDLIM3):c.318del (p.Glu106fs) rs2095726024
NM_014476.6(PDLIM3):c.319T>C (p.Ser107Pro)
NM_014476.6(PDLIM3):c.319_324del (p.Ser107_Glu108del)
NM_014476.6(PDLIM3):c.399-17dup rs1176465439
NM_014476.6(PDLIM3):c.399-3_399-2del rs772601097
NM_014476.6(PDLIM3):c.399-9T>C rs2153333102
NM_014476.6(PDLIM3):c.3G>A (p.Met1Ile)
NM_014476.6(PDLIM3):c.414C>T (p.Pro138=) rs553881498
NM_014476.6(PDLIM3):c.417C>A (p.Ser139=) rs200230349
NM_014476.6(PDLIM3):c.434G>A (p.Ser145Asn)
NM_014476.6(PDLIM3):c.465T>C (p.Thr155=) rs2095701642
NM_014476.6(PDLIM3):c.474C>T (p.Thr158=)
NM_014476.6(PDLIM3):c.475A>G (p.Ile159Val)
NM_014476.6(PDLIM3):c.485G>A (p.Gly162Asp)
NM_014476.6(PDLIM3):c.4C>A (p.Pro2Thr)
NM_014476.6(PDLIM3):c.500C>T (p.Ala167Val)
NM_014476.6(PDLIM3):c.503C>T (p.Ala168Val)
NM_014476.6(PDLIM3):c.505A>G (p.Lys169Glu)
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)
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)
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=)
NM_014476.6(PDLIM3):c.58G>T (p.Gly20Cys) rs1305441463
NM_014476.6(PDLIM3):c.594A>G (p.Ser198=)
NM_014476.6(PDLIM3):c.602A>G (p.Asn201Ser)
NM_014476.6(PDLIM3):c.608T>C (p.Met203Thr)
NM_014476.6(PDLIM3):c.629T>C (p.Val210Ala)
NM_014476.6(PDLIM3):c.63del (p.Ile21fs)
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)
NM_014476.6(PDLIM3):c.663-18G>A
NM_014476.6(PDLIM3):c.663-19C>T
NM_014476.6(PDLIM3):c.663C>T (p.Ser221=)
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=)
NM_014476.6(PDLIM3):c.673del (p.Ala225fs)
NM_014476.6(PDLIM3):c.674C>G (p.Ala225Gly) rs2153332393
NM_014476.6(PDLIM3):c.67T>C (p.Phe23Leu)
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)
NM_014476.6(PDLIM3):c.703C>G (p.Arg235Gly) rs751273771
NM_014476.6(PDLIM3):c.703C>T (p.Arg235Trp)
NM_014476.6(PDLIM3):c.706A>C (p.Met236Leu)
NM_014476.6(PDLIM3):c.716A>G (p.Asp239Gly)
NM_014476.6(PDLIM3):c.722G>A (p.Arg241Gln)
NM_014476.6(PDLIM3):c.731C>A (p.Pro244His)
NM_014476.6(PDLIM3):c.73C>T (p.Gln25Ter)
NM_014476.6(PDLIM3):c.750G>A (p.Ser250=)
NM_014476.6(PDLIM3):c.773G>A (p.Gly258Glu) rs730880178
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.784G>A (p.Asp262Asn)
NM_014476.6(PDLIM3):c.794-14G>C
NM_014476.6(PDLIM3):c.794-15C>T
NM_014476.6(PDLIM3):c.794-9_794-6del
NM_014476.6(PDLIM3):c.794A>G (p.Asp265Gly) rs750061720
NM_014476.6(PDLIM3):c.800G>A (p.Arg267His)
NM_014476.6(PDLIM3):c.802C>A (p.Pro268Thr) rs542630585
NM_014476.6(PDLIM3):c.804G>A (p.Pro268=)
NM_014476.6(PDLIM3):c.805del (p.Ala269fs)
NM_014476.6(PDLIM3):c.815G>A (p.Arg272Gln)
NM_014476.6(PDLIM3):c.818G>A (p.Ser273Asn)
NM_014476.6(PDLIM3):c.822G>A (p.Val274=) rs1580233408
NM_014476.6(PDLIM3):c.830C>T (p.Pro277Leu)
NM_014476.6(PDLIM3):c.834G>A (p.Val278=)
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=)
NM_014476.6(PDLIM3):c.845A>G (p.His282Arg)
NM_014476.6(PDLIM3):c.850G>A (p.Gly284Ser)
NM_014476.6(PDLIM3):c.851G>A (p.Gly284Asp)
NM_014476.6(PDLIM3):c.857_870del (p.Gly286fs)
NM_014476.6(PDLIM3):c.861G>T (p.Gly287=) rs764585438
NM_014476.6(PDLIM3):c.869G>A (p.Arg290Lys)
NM_014476.6(PDLIM3):c.875C>G (p.Pro292Arg) rs200921332
NM_014476.6(PDLIM3):c.875C>T (p.Pro292Leu)
NM_014476.6(PDLIM3):c.882_883del (p.Cys294_Asp295delinsTer)
NM_014476.6(PDLIM3):c.887A>T (p.Lys296Ile)
NM_014476.6(PDLIM3):c.890G>A (p.Cys297Tyr) rs768354891
NM_014476.6(PDLIM3):c.893G>A (p.Gly298Glu)
NM_014476.6(PDLIM3):c.899G>A (p.Gly300Asp)
NM_014476.6(PDLIM3):c.8A>G (p.Gln3Arg) rs1227606973
NM_014476.6(PDLIM3):c.906-2A>G
NM_014476.6(PDLIM3):c.906-4A>G
NM_014476.6(PDLIM3):c.906-7C>G rs2153330636
NM_014476.6(PDLIM3):c.906-8C>T
NM_014476.6(PDLIM3):c.908G>T (p.Gly303Val)
NM_014476.6(PDLIM3):c.916G>A (p.Val306Met) rs1561187562
NM_014476.6(PDLIM3):c.917T>C (p.Val306Ala)
NM_014476.6(PDLIM3):c.923C>T (p.Ala308Val)
NM_014476.6(PDLIM3):c.92G>C (p.Arg31Thr)
NM_014476.6(PDLIM3):c.93+13A>C
NM_014476.6(PDLIM3):c.93+16C>A rs557718466
NM_014476.6(PDLIM3):c.93+2_93+4del rs2153340587
NM_014476.6(PDLIM3):c.93+9C>A rs961788900
NM_014476.6(PDLIM3):c.93+9C>G
NM_014476.6(PDLIM3):c.94-11A>T
NM_014476.6(PDLIM3):c.94-14A>G
NM_014476.6(PDLIM3):c.94-7C>A
NM_014476.6(PDLIM3):c.946G>A (p.Glu316Lys)
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)
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.975C>T (p.Leu325=)
NM_014476.6(PDLIM3):c.989A>C (p.Lys330Thr)
NM_014476.6(PDLIM3):c.992G>T (p.Gly331Val) rs1060500600

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