ClinVar Miner

List of variants reported as uncertain significance for polymicrogyria

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_201525.4(ADGRG1):c.*549C>T rs74573309 0.00517
NM_005560.6(LAMA5):c.10726G>A (p.Glu3576Lys) rs139502000 0.00406
NM_201525.4(ADGRG1):c.*1105G>A rs145861349 0.00312
NM_001004432.4(LINGO4):c.851C>T (p.Ser284Phe) rs151205204 0.00287
NM_201525.4(ADGRG1):c.*1336T>C rs139730624 0.00216
NM_201525.4(ADGRG1):c.-35-8590T>C rs573010528 0.00192
NM_058004.4(PI4KA):c.4672C>T (p.Leu1558=) rs113882528 0.00176
NM_058004.4(PI4KA):c.4368C>T (p.Tyr1456=) rs113584704 0.00175
NM_201525.4(ADGRG1):c.1287-28G>C rs60624815 0.00163
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=) rs113358058 0.00157
NM_201525.4(ADGRG1):c.*139G>A rs376254412 0.00153
NM_201525.4(ADGRG1):c.*250G>T rs113562508 0.00150
NM_001776.6(ENTPD1):c.25G>A (p.Val9Met) rs150772804 0.00059
NM_201525.4(ADGRG1):c.711G>A (p.Val237=) rs148219127 0.00055
NM_201525.4(ADGRG1):c.612C>T (p.Pro204=) rs147495708 0.00053
NM_201525.4(ADGRG1):c.1270G>A (p.Ala424Thr) rs147479620 0.00035
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu) rs147879224 0.00033
NM_201525.4(ADGRG1):c.214C>T (p.Pro72Ser) rs144561715 0.00030
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_201525.4(ADGRG1):c.97C>T (p.Arg33Cys) rs776480483 0.00029
NM_058004.4(PI4KA):c.2797A>G (p.Met933Val) rs142927362 0.00026
NM_058004.4(PI4KA):c.501G>T (p.Met167Ile) rs185657767 0.00019
NM_201525.4(ADGRG1):c.*768T>G rs779818913 0.00018
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu) rs138344683 0.00018
NM_201525.4(ADGRG1):c.985G>A (p.Val329Met) rs61744444 0.00015
NM_058004.4(PI4KA):c.5137G>C (p.Asp1713His) rs142131375 0.00014
NM_058004.4(PI4KA):c.5596G>A (p.Asp1866Asn) rs368442314 0.00014
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=) rs368883473 0.00014
NM_201525.4(ADGRG1):c.1287-6G>A rs112805221 0.00014
NM_201525.4(ADGRG1):c.760C>T (p.Arg254Trp) rs368130981 0.00014
NM_201525.4(ADGRG1):c.-11G>A rs112775979 0.00013
NM_201525.4(ADGRG1):c.*196C>T rs11556144 0.00012
NM_201525.4(ADGRG1):c.*888C>T rs772040906 0.00012
NM_201525.4(ADGRG1):c.2037G>A (p.Ser679=) rs186736979 0.00012
NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg) rs373741981 0.00012
NM_201525.4(ADGRG1):c.*551G>A rs577251205 0.00011
NM_201525.4(ADGRG1):c.402G>A (p.Pro134=) rs149607882 0.00011
NM_201525.4(ADGRG1):c.*414G>T rs376945009 0.00010
NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=) rs747812668 0.00010
NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met) rs200241873 0.00010
NM_201525.4(ADGRG1):c.*877C>T rs920850607 0.00009
NM_201525.4(ADGRG1):c.*943C>T rs895671859 0.00009
NM_201525.4(ADGRG1):c.1017+11G>A rs199806423 0.00009
NM_201525.4(ADGRG1):c.322C>T (p.Arg108Cys) rs145881545 0.00009
NM_201525.4(ADGRG1):c.*105T>C rs1043216807 0.00008
NM_000426.4(LAMA2):c.5179G>C (p.Glu1727Gln) rs374201203 0.00007
NM_001004432.4(LINGO4):c.1262G>A (p.Arg421Gln) rs143154971 0.00006
NM_201525.4(ADGRG1):c.*1129G>A rs917007426 0.00006
NM_201525.4(ADGRG1):c.*221C>T rs969962196 0.00006
NM_201525.4(ADGRG1):c.1462G>A (p.Gly488Ser) rs200680234 0.00006
NM_201525.4(ADGRG1):c.1744A>T (p.Met582Leu) rs775708467 0.00006
NM_201525.4(ADGRG1):c.1780C>T (p.Arg594Cys) rs371152613 0.00006
NM_201525.4(ADGRG1):c.2048C>T (p.Ser683Leu) rs1012168637 0.00006
NM_201525.4(ADGRG1):c.1415G>C (p.Ser472Thr) rs201132218 0.00005
NM_201525.4(ADGRG1):c.1787A>G (p.His596Arg) rs576843318 0.00005
NM_201525.4(ADGRG1):c.87G>A (p.Arg29=) rs145668224 0.00005
NM_201525.4(ADGRG1):c.*388G>A rs890705011 0.00004
NM_201525.4(ADGRG1):c.*68C>T rs919813529 0.00004
NM_201525.4(ADGRG1):c.620+11C>T rs200892904 0.00004
NM_201525.4(ADGRG1):c.726C>T (p.Pro242=) rs371342603 0.00004
NM_201525.4(ADGRG1):c.761G>A (p.Arg254Gln) rs145001300 0.00004
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) rs377017892 0.00003
NM_058004.4(PI4KA):c.803G>A (p.Arg268His) rs370921524 0.00003
NM_201525.4(ADGRG1):c.1048G>A (p.Val350Ile) rs587783649 0.00003
NM_201525.4(ADGRG1):c.111G>A (p.Gln37=) rs775331098 0.00003
NM_201525.4(ADGRG1):c.1269C>T (p.Ala423=) rs768984787 0.00003
NM_201525.4(ADGRG1):c.1798T>C (p.Trp600Arg) rs1414923097 0.00003
NM_201525.4(ADGRG1):c.2001G>A (p.Lys667=) rs1241910381 0.00003
NM_201525.4(ADGRG1):c.304C>T (p.His102Tyr) rs1260128774 0.00003
NM_005682.7(ADGRG1):c.-154+9C>T rs1251159210 0.00002
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys) rs587777714 0.00002
NM_201525.4(ADGRG1):c.1511C>G (p.Thr504Ser) rs775153451 0.00002
NM_201525.4(ADGRG1):c.1646G>A (p.Gly549Asp) rs1220215860 0.00002
NM_201525.4(ADGRG1):c.1665G>T (p.Met555Ile) rs370457958 0.00002
NM_201525.4(ADGRG1):c.191C>T (p.Ala64Val) rs199870082 0.00002
NM_201525.4(ADGRG1):c.2057G>A (p.Arg686His) rs768017345 0.00002
NM_201525.4(ADGRG1):c.490C>A (p.Pro164Thr) rs781499938 0.00002
NM_201525.4(ADGRG1):c.695G>A (p.Arg232Gln) rs751686396 0.00002
NM_201525.4(ADGRG1):c.703G>A (p.Ala235Thr) rs139207635 0.00002
NM_201525.4(ADGRG1):c.937T>C (p.Leu313=) rs776724275 0.00002
NM_000466.3(PEX1):c.2744T>C (p.Ile915Thr) rs757305859 0.00001
NM_005682.7(ADGRG1):c.-213G>A rs1213877988 0.00001
NM_014845.6(FIG4):c.2119G>A (p.Gly707Arg) rs376570182 0.00001
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_058004.4(PI4KA):c.5512G>A (p.Asp1838Asn) rs760261849 0.00001
NM_178012.5(TUBB2B):c.111T>C (p.His37=) rs11550264 0.00001
NM_201525.4(ADGRG1):c.*1046A>G rs1183706825 0.00001
NM_201525.4(ADGRG1):c.*1156G>A rs945845300 0.00001
NM_201525.4(ADGRG1):c.*420C>T rs1425487986 0.00001
NM_201525.4(ADGRG1):c.*819G>C rs1279074558 0.00001
NM_201525.4(ADGRG1):c.-35-8657C>T rs1314496343 0.00001
NM_201525.4(ADGRG1):c.1016C>T (p.Pro339Leu) rs575505827 0.00001
NM_201525.4(ADGRG1):c.1063+8T>C rs760949956 0.00001
NM_201525.4(ADGRG1):c.1183G>A (p.Val395Met) rs1343993863 0.00001
NM_201525.4(ADGRG1):c.1246C>T (p.Leu416=) rs587783651 0.00001
NM_201525.4(ADGRG1):c.1377G>A (p.Pro459=) rs772599432 0.00001
NM_201525.4(ADGRG1):c.1563C>T (p.Pro521=) rs1443429078 0.00001
NM_201525.4(ADGRG1):c.157G>C (p.Asp53His) rs758040938 0.00001
NM_201525.4(ADGRG1):c.1597G>A (p.Val533Met) rs768523392 0.00001
NM_201525.4(ADGRG1):c.183C>T (p.Ser61=) rs200846541 0.00001
NM_201525.4(ADGRG1):c.287G>A (p.Arg96Gln) rs587783659 0.00001
NM_201525.4(ADGRG1):c.391C>T (p.Gln131Ter) rs773498177 0.00001
NM_201525.4(ADGRG1):c.621-5G>A rs202245406 0.00001
NM_201525.4(ADGRG1):c.64+15G>T rs200303272 0.00001
NM_201525.4(ADGRG1):c.707C>T (p.Thr236Met) rs764823064 0.00001
NM_201525.4(ADGRG1):c.708G>A (p.Thr236=) rs752439023 0.00001
NM_201525.4(ADGRG1):c.765G>A (p.Gln255=) rs768174089 0.00001
46;XY;t(6;16)(p21.1;q21)dn
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_001184880.2(PCDH19):c.2261_2262del (p.Glu754fs)
NM_005560.6(LAMA5):c.7114G>A (p.Asp2372Asn) rs111653839
NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg) rs1561523716
NM_005682.7(ADGRG1):c.-197G>A rs1343866356
NM_014845.6(FIG4):c.2149A>G (p.Lys717Glu) rs1259009213
NM_014845.6(FIG4):c.365A>G (p.His122Arg)
NM_014845.6(FIG4):c.504C>G (p.Ser168Arg)
NM_015922.3(NSDHL):c.790-5G>T rs377291339
NM_058004.4(PI4KA):c.1076A>G (p.Asn359Ser) rs1935729656
NM_058004.4(PI4KA):c.2041C>A (p.Gln681Lys)
NM_058004.4(PI4KA):c.2684C>T (p.Ser895Phe) rs1932362121
NM_058004.4(PI4KA):c.2819C>T (p.Ala940Val)
NM_058004.4(PI4KA):c.3109G>A (p.Ala1037Thr) rs1568988215
NM_058004.4(PI4KA):c.3646T>C (p.Trp1216Arg)
NM_058004.4(PI4KA):c.3757G>A (p.Ala1253Thr)
NM_058004.4(PI4KA):c.3868C>G (p.Pro1290Ala)
NM_058004.4(PI4KA):c.4489G>A (p.Ala1497Thr)
NM_058004.4(PI4KA):c.5116C>G (p.Pro1706Ala)
NM_058004.4(PI4KA):c.5645T>C (p.Phe1882Ser) rs1925470890
NM_058004.4(PI4KA):c.5653C>T (p.Arg1885Cys)
NM_058004.4(PI4KA):c.5860C>G (p.Gln1954Glu)
NM_058004.4(PI4KA):c.6142T>A (p.Cys2048Ser)
NM_058004.4(PI4KA):c.712del (p.Leu238fs)
NM_058004.4(PI4KA):c.911T>A (p.Ile304Asn) rs752196534
NM_173630.4(RTTN):c.5746-20A>G
NM_178012.5(TUBB2B):c.1091C>T (p.Ser364Leu)
NM_178012.5(TUBB2B):c.1223T>C (p.Phe408Ser) rs2113818887
NM_178012.5(TUBB2B):c.1248C>T (p.Asn416=) rs17145779
NM_178012.5(TUBB2B):c.126G>T (p.Leu42Phe) rs76191712
NM_178012.5(TUBB2B):c.178G>A (p.Val60Ile) rs2113819578
NM_178012.5(TUBB2B):c.208C>A (p.Pro70Thr) rs1554126963
NM_178012.5(TUBB2B):c.22C>T (p.Gln8Ter)
NM_178012.5(TUBB2B):c.257G>T (p.Arg86Ile)
NM_178012.5(TUBB2B):c.421G>A (p.Gly141Ser) rs1412515838
NM_178012.5(TUBB2B):c.43C>A (p.Gln15Lys) rs1085307566
NM_178012.5(TUBB2B):c.491T>C (p.Met164Thr) rs1561826815
NM_178012.5(TUBB2B):c.498C>T (p.Thr166=) rs587784499
NM_178012.5(TUBB2B):c.4C>A (p.Arg2Ser) rs1581526962
NM_178012.5(TUBB2B):c.563C>T (p.Ser188Leu)
NM_178012.5(TUBB2B):c.607G>C (p.Asp203His)
NM_178012.5(TUBB2B):c.728C>T (p.Pro243Leu) rs1554126902
NM_178012.5(TUBB2B):c.741C>G (p.Asn247Lys) rs1454173126
NM_178012.5(TUBB2B):c.761C>A (p.Ala254Glu) rs1757274660
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568
NM_178012.5(TUBB2B):c.81G>C (p.Glu27Asp) rs1757291076
NM_178012.5(TUBB2B):c.859C>T (p.Pro287Ser) rs587784501
NM_178012.5(TUBB2B):c.895A>G (p.Met299Val)
NM_201525.4(ADGRG1):c.*1284G>T rs897924743
NM_201525.4(ADGRG1):c.*1372T>C rs2047985146
NM_201525.4(ADGRG1):c.*332G>A rs2047857379
NM_201525.4(ADGRG1):c.*648C>A rs2047897832
NM_201525.4(ADGRG1):c.*69G>A rs542703348
NM_201525.4(ADGRG1):c.1063+9G>C rs587783650
NM_201525.4(ADGRG1):c.1148C>A (p.Thr383Asn) rs1305914929
NM_201525.4(ADGRG1):c.1148C>T (p.Thr383Ile) rs1305914929
NM_201525.4(ADGRG1):c.1170C>A (p.Val390=) rs1255029602
NM_201525.4(ADGRG1):c.1232G>A (p.Cys411Tyr)
NM_201525.4(ADGRG1):c.1237G>A (p.Val413Ile) rs372354417
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) rs587783653
NM_201525.4(ADGRG1):c.1505T>C (p.Phe502Ser)
NM_201525.4(ADGRG1):c.1561C>G (p.Pro521Ala)
NM_201525.4(ADGRG1):c.1568T>A (p.Phe523Tyr) rs201202303
NM_201525.4(ADGRG1):c.1574T>G (p.Val525Gly)
NM_201525.4(ADGRG1):c.1716_1722dup (p.Val575fs)
NM_201525.4(ADGRG1):c.1775G>A (p.Arg592Gln) rs140298537
NM_201525.4(ADGRG1):c.1807G>A (p.Val603Met)
NM_201525.4(ADGRG1):c.1959G>A (p.Trp653Ter) rs2148657996
NM_201525.4(ADGRG1):c.308T>C (p.Leu103Pro)
NM_201525.4(ADGRG1):c.352_452del (p.Ser118fs)
NM_201525.4(ADGRG1):c.412A>C (p.Thr138Pro) rs560954695
NM_201525.4(ADGRG1):c.462C>G (p.Ala154=) rs373133040
NM_201525.4(ADGRG1):c.64+5G>A rs2043729030
NM_201525.4(ADGRG1):c.64+5G>T
NM_201525.4(ADGRG1):c.641C>G (p.Ser214Trp) rs114515505
NM_201525.4(ADGRG1):c.685G>A (p.Glu229Lys) rs572021323
NM_201525.4(ADGRG1):c.709G>T (p.Val237Leu) rs777329430
NM_201525.4(ADGRG1):c.797C>T (p.Ser266Leu) rs1230098120
NM_201525.4(ADGRG1):c.843_844delinsGC (p.Ser281_Gly282delinsArgArg) rs1057517931
NM_201525.4(ADGRG1):c.900G>C (p.Gln300His) rs587783661

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