ClinVar Miner

List of variants reported as likely benign for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 169
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HGVS dbSNP
NM_001101426.4(CRPPA):c.1017T>C (p.Val339=) rs773884120
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460
NM_001101426.4(CRPPA):c.408A>G (p.Ala136=) rs541412708
NM_001101426.4(CRPPA):c.934-5A>G rs886043337
NM_001101426.4(CRPPA):c.945C>T (p.Val315=) rs1554300356
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665
NM_001165928.3(DAG1):c.1014C>T (p.Ile338=) rs773685771
NM_001165928.3(DAG1):c.1026C>T (p.Pro342=) rs1553652858
NM_001165928.3(DAG1):c.1122C>T (p.Gly374=) rs139993618
NM_001165928.3(DAG1):c.1308G>A (p.Thr436=) rs143763229
NM_001165928.3(DAG1):c.1401C>T (p.Ser467=) rs1222765845
NM_001165928.3(DAG1):c.1773C>T (p.Phe591=) rs2229010
NM_001165928.3(DAG1):c.2036G>A (p.Arg679His) rs113904914
NM_001165928.3(DAG1):c.2082C>T (p.Asn694=) rs146453412
NM_001165928.3(DAG1):c.2313C>T (p.Ala771=) rs764289801
NM_001165928.3(DAG1):c.24G>A (p.Ser8=) rs1229832209
NM_001165928.3(DAG1):c.2511C>T (p.Pro837=) rs778665335
NM_001165928.3(DAG1):c.258G>C (p.Leu86Phe) rs145403829
NM_001165928.3(DAG1):c.278T>C (p.Ile93Thr) rs149218670
NM_001165928.3(DAG1):c.286-10del rs747305463
NM_001165928.3(DAG1):c.384G>A (p.Val128=) rs143829263
NM_001165928.3(DAG1):c.402C>T (p.Ser134=) rs367603470
NM_001165928.3(DAG1):c.57C>T (p.Leu19=) rs768105958
NM_001165928.3(DAG1):c.591C>T (p.Ala197=) rs768487898
NM_001165928.3(DAG1):c.599C>G (p.Thr200Ser) rs41290704
NM_004737.6(LARGE1):c.*154C>A rs73399512
NM_004737.6(LARGE1):c.*207G>A rs16992036
NM_004737.6(LARGE1):c.*740A>G rs116335813
NM_004737.6(LARGE1):c.*856G>A rs77663505
NM_004737.6(LARGE1):c.*921C>G rs16992034
NM_004737.6(LARGE1):c.-31G>A rs117199378
NM_004737.6(LARGE1):c.-460C>G rs114106875
NM_004737.6(LARGE1):c.-63C>T rs16992986
NM_004737.6(LARGE1):c.1008T>C (p.Asp336=) rs115076367
NM_004737.6(LARGE1):c.1548C>T (p.Tyr516=) rs34292743
NM_004737.6(LARGE1):c.165G>C (p.Thr55=) rs63446460
NM_004737.6(LARGE1):c.1827A>G (p.Ser609=) rs11913417
NM_004737.6(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520
NM_004737.6(LARGE1):c.2100C>T (p.Asn700=) rs17722172
NM_004737.6(LARGE1):c.309C>T (p.Ser103=) rs59349720
NM_004737.6(LARGE1):c.576C>T (p.Pro192=) rs36002910
NM_006731.2(FKTN):c.*5618T>A rs1048215
NM_006731.2(FKTN):c.*786T>G rs10978177
NM_006731.2(FKTN):c.-88-1268G>C rs4742953
NM_006731.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_006731.2(FKTN):c.102A>C (p.Thr34=) rs138740640
NM_006731.2(FKTN):c.1173-8T>C rs767093535
NM_006731.2(FKTN):c.1236C>A (p.Pro412=) rs1554766880
NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_006731.2(FKTN):c.12C>T (p.Ile4=) rs1389073650
NM_006731.2(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_006731.2(FKTN):c.258C>T (p.Asn86=) rs1554751233
NM_006731.2(FKTN):c.285T>C (p.His95=) rs148046151
NM_006731.2(FKTN):c.30G>A (p.Leu10=) rs202047149
NM_006731.2(FKTN):c.333T>C (p.Thr111=) rs141729611
NM_006731.2(FKTN):c.355C>T (p.Leu119=) rs1554751390
NM_006731.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_006731.2(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_006731.2(FKTN):c.75G>A (p.Leu25=) rs188900946
NM_006731.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_006731.2(FKTN):c.781-9T>C rs370564232
NM_006876.3(B4GAT1):c.69G>C (p.Ala23=) rs146812867
NM_006876.3(B4GAT1):c.780C>T (p.Phe260=) rs1319732212
NM_007171.3(POMT1):c.1052+9A>G rs202095070
NM_007171.3(POMT1):c.111G>C (p.Pro37=) rs761641734
NM_007171.3(POMT1):c.1134A>G (p.Val378=) rs1280401262
NM_007171.3(POMT1):c.1182T>C (p.Pro394=) rs146945848
NM_007171.3(POMT1):c.1514G>A (p.Ser505Asn) rs750937093
NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) rs117985576
NM_007171.3(POMT1):c.1611C>G (p.Ser537Arg) rs150367385
NM_007171.3(POMT1):c.1892-7_1892-6delinsAA rs1064793740
NM_007171.3(POMT1):c.2097C>T (p.Ser699=) rs778418119
NM_007171.3(POMT1):c.2133C>T (p.His711=) rs141895982
NM_007171.3(POMT1):c.2244G>A (p.Ter748=) rs147143094
NM_007171.3(POMT1):c.280+7_280+8del rs561658895
NM_007171.3(POMT1):c.285C>T (p.Tyr95=) rs1554772428
NM_007171.3(POMT1):c.30G>A (p.Val10=) rs201533471
NM_007171.3(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_007171.3(POMT1):c.568C>T (p.Leu190=) rs752931210
NM_007171.3(POMT1):c.912C>T (p.Ala304=) rs886043307
NM_007171.3(POMT1):c.993C>T (p.Asn331=) rs753694905
NM_013334.3(GMPPB):c.1098C>T (p.Asn366=) rs147074020
NM_013334.3(GMPPB):c.1129G>A (p.Gly377Ser) rs184127567
NM_013334.3(GMPPB):c.210+9_210+10del rs776779111
NM_013334.3(GMPPB):c.309T>C (p.Pro103=) rs147516683
NM_013334.3(GMPPB):c.960G>A (p.Leu320=) rs55816606
NM_013382.5(POMT2):c.1017C>T (p.Tyr339=) rs1026361359
NM_013382.5(POMT2):c.1045C>T (p.Arg349Trp) rs141339355
NM_013382.5(POMT2):c.1317C>T (p.Val439=) rs898725472
NM_013382.5(POMT2):c.1404A>G (p.Lys468=) rs150491326
NM_013382.5(POMT2):c.1512C>T (p.Cys504=) rs775728269
NM_013382.5(POMT2):c.1701C>G (p.Pro567=) rs151051452
NM_013382.5(POMT2):c.1824C>T (p.Tyr608=) rs759220971
NM_013382.5(POMT2):c.1959G>A (p.Pro653=) rs775222771
NM_013382.5(POMT2):c.567G>A (p.Leu189=) rs780313126
NM_013382.5(POMT2):c.636G>A (p.Lys212=) rs368906346
NM_013382.5(POMT2):c.649G>A (p.Ala217Thr) rs144748043
NM_014254.3(RXYLT1):c.1074A>C (p.Thr358=) rs148356495
NM_014254.3(RXYLT1):c.1170G>A (p.Lys390=) rs145999803
NM_014254.3(RXYLT1):c.1272G>A (p.Glu424=) rs536862073
NM_014254.3(RXYLT1):c.43C>T (p.Leu15=) rs770861350
NM_014254.3(RXYLT1):c.84C>T (p.Phe28=) rs200123669
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.1895+22_1895+23ins22 rs1553162621
NM_017739.3(POMGNT1):c.301G>A (p.Val101Ile) rs150576537
NM_021971.2(GMPPB):c.130-6T>G rs369862012
NM_021971.2(GMPPB):c.459A>G (p.Thr153=) rs140968388
NM_021971.2(GMPPB):c.562-9C>A rs183240200
NM_024301.5(FKRP):c.1140G>A (p.Gly380=) rs552260353
NM_024301.5(FKRP):c.114G>T (p.Gly38=) rs878855079
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) rs104894680
NM_024301.5(FKRP):c.1155G>A (p.Ser385=) rs369432328
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502
NM_024301.5(FKRP):c.1405C>T (p.Leu469=) rs143129484
NM_024301.5(FKRP):c.210C>T (p.Phe70=) rs569336346
NM_024301.5(FKRP):c.351G>A (p.Pro117=) rs1060504470
NM_024301.5(FKRP):c.360C>T (p.Tyr120=) rs781576638
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382
NM_024301.5(FKRP):c.456C>T (p.Ser152=) rs199714523
NM_024301.5(FKRP):c.474C>G (p.Ala158=) rs963599756
NM_024301.5(FKRP):c.516C>T (p.Asn172=) rs970724879
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208
NM_024301.5(FKRP):c.582G>C (p.Leu194=) rs771223960
NM_024301.5(FKRP):c.597G>T (p.Val199=) rs1360004383
NM_024301.5(FKRP):c.606G>A (p.Leu202=) rs140084192
NM_024301.5(FKRP):c.678C>G (p.Thr226=) rs1060504471
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370
NM_024301.5(FKRP):c.828A>G (p.Leu276=) rs745994685
NM_024301.5(FKRP):c.885C>T (p.Arg295=) rs769005880
NM_024301.5(FKRP):c.912G>A (p.Thr304=) rs1301337774
NM_024301.5(FKRP):c.954C>T (p.Cys318=) rs755968761
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402
NM_032237.5(POMK):c.1013T>G (p.Leu338Arg) rs200555259
NM_032237.5(POMK):c.114C>T (p.Leu38=) rs182189714
NM_032237.5(POMK):c.142T>C (p.Ser48Pro) rs34466747
NM_032237.5(POMK):c.219C>G (p.Ser73=) rs188920070
NM_032237.5(POMK):c.373A>T (p.Met125Leu) rs146303063
NM_032237.5(POMK):c.564C>T (p.Ile188=) rs55724435
NM_032237.5(POMK):c.609C>T (p.Cys203=) rs567303957
NM_032237.5(POMK):c.687C>T (p.Asp229=) rs751085294
NM_032237.5(POMK):c.759C>T (p.Phe253=) rs201232766
NM_032237.5(POMK):c.882G>A (p.Gly294=) rs56282240
NM_032237.5(POMK):c.886A>G (p.Ile296Val) rs6990761
NM_032806.6(POMGNT2):c.1113C>T (p.Pro371=) rs772146015
NM_032806.6(POMGNT2):c.1602C>T (p.Tyr534=) rs143832191
NM_032806.6(POMGNT2):c.1669C>T (p.Leu557=) rs1477248373
NM_032806.6(POMGNT2):c.1740G>A (p.Thr580=) rs148890110
NM_032806.6(POMGNT2):c.30C>T (p.Leu10=) rs147920308
NM_032806.6(POMGNT2):c.422G>A (p.Arg141His) rs576598140
NM_032806.6(POMGNT2):c.438G>A (p.Pro146=) rs375314883
NM_032806.6(POMGNT2):c.528C>T (p.Phe176=) rs777276517
NM_032806.6(POMGNT2):c.561C>T (p.His187=) rs147429438
NM_032806.6(POMGNT2):c.576C>T (p.Phe192=) rs755626367
NM_032806.6(POMGNT2):c.674G>A (p.Arg225Gln) rs138980930
NM_032806.6(POMGNT2):c.780A>G (p.Ser260=) rs371749889
NM_032806.6(POMGNT2):c.81G>A (p.Glu27=) rs201572917
NM_032806.6(POMGNT2):c.861G>A (p.Glu287=) rs187003222
NM_152490.5(B3GALNT2):c.102C>G (p.Ala34=) rs1358930332
NM_152490.5(B3GALNT2):c.1089C>T (p.Leu363=) rs1057522976
NM_152490.5(B3GALNT2):c.1215C>T (p.Pro405=) rs145518904
NM_152490.5(B3GALNT2):c.249A>T (p.Thr83=) rs770930732
NM_152490.5(B3GALNT2):c.30G>A (p.Pro10=) rs986453979
NM_152490.5(B3GALNT2):c.321G>A (p.Glu107=) rs291396
NM_152490.5(B3GALNT2):c.369T>C (p.Asn123=) rs149734145
NM_152490.5(B3GALNT2):c.402C>T (p.Asp134=) rs144848710
NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=) rs766891631
NM_152490.5(B3GALNT2):c.842-4A>G rs750335648

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