ClinVar Miner

List of variants reported as uncertain significance for cerebral lipidosis with dementia by Counsyl

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu) rs148511084 0.00018
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly) rs761736583 0.00016
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val) rs151251788 0.00015
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293 0.00012
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208 0.00012
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) rs146938346 0.00011
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516 0.00010
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_000520.6(HEXA):c.38C>T (p.Ala13Val) rs145666272 0.00009
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219 0.00007
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp) rs762494949 0.00006
NM_000520.6(HEXA):c.286G>A (p.Val96Ile) rs868358306 0.00006
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948 0.00006
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu) rs371133961 0.00005
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val) rs771447407 0.00004
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter) rs376609492 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316 0.00004
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194 0.00004
NM_000391.4(TPP1):c.887-18A>G rs935526225 0.00003
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His) rs753275244 0.00003
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 0.00003
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) rs573269641 0.00002
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_000521.4(HEXB):c.1614-16_1615dup rs1554037309 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg) rs1348967263 0.00001
NM_000520.6(HEXA):c.*12C>T rs532797279 0.00001
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979 0.00001
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) rs759157781 0.00001
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg) rs764291005 0.00001
NM_000520.6(HEXA):c.1275A>G (p.Ile425Met) rs749368995 0.00001
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro) rs752223090 0.00001
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro) rs144089645 0.00001
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871 0.00001
NM_000520.6(HEXA):c.1375A>G (p.Met459Val) rs547192168 0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln) rs766966378 0.00001
NM_000520.6(HEXA):c.346+2dup rs1430416918 0.00001
NM_000520.6(HEXA):c.388G>C (p.Glu130Gln) rs917904407 0.00001
NM_000520.6(HEXA):c.428G>T (p.Ser143Ile) rs1273494297 0.00001
NM_000520.6(HEXA):c.535C>T (p.His179Tyr) rs781493030 0.00001
NM_000520.6(HEXA):c.598G>A (p.Val200Met) rs1800429 0.00001
NM_000520.6(HEXA):c.749G>T (p.Gly250Val) rs121907959 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys) rs749646826 0.00001
NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla) rs768218036 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NM_000521.4(HEXB):c.512-3C>A rs1376742145 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala) rs1245201394 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter) rs747389432 0.00001
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs) rs755723759 0.00001
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) rs587780327 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu) rs796052338 0.00001
NM_001042432.2(CLN3):c.837+5G>A rs756848924 0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867 0.00001
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352 0.00001
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) rs750081097 0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323 0.00001
NM_018941.4(CLN8):c.611G>A (p.Arg204His) rs386834134 0.00001
NM_032380.5(GFM2):c.2296C>T (p.Gln766Ter) rs1407085233 0.00001
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del) rs1554901785
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) rs763961289
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro) rs1554902028
NM_000391.4(TPP1):c.508+2dup rs1554902017
NM_000391.4(TPP1):c.731T>C (p.Met244Thr) rs1554901895
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) rs796053439
NM_000520.6(HEXA):c.-1dup (p.Met1fs) rs1555475553
NM_000520.6(HEXA):c.-7_1del (p.Met1fs) rs759154405
NM_000520.6(HEXA):c.1003A>T (p.Ile335Phe) rs1555472604
NM_000520.6(HEXA):c.1008G>C (p.Gln336His) rs1555472602
NM_000520.6(HEXA):c.101A>G (p.Asp34Gly) rs1555475512
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg) rs1417593132
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile) rs557550173
NM_000520.6(HEXA):c.1146+18A>G rs1555472543
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser) rs778878211
NM_000520.6(HEXA):c.1214_1219del (p.403_404EL[1]) rs1555472429
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.6(HEXA):c.1571del (p.Gln524fs) rs1555472158
NM_000520.6(HEXA):c.1578del (p.Phe526fs) rs1555472157
NM_000520.6(HEXA):c.211C>G (p.Leu71Val) rs775000497
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn) rs1555475468
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser) rs1217876329
NM_000520.6(HEXA):c.446CTG[1] (p.Ala150del) rs1555473140
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys) rs1064794856
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly) rs1002712424
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.6(HEXA):c.941A>T (p.Asp314Val) rs1555472696
NM_000521.4(HEXB):c.*4dup (p.Ter557=) rs771506320
NM_000521.4(HEXB):c.127G>T (p.Ala43Ser) rs797045614
NM_000521.4(HEXB):c.1425GAAACA[1] (p.476KQ[1]) rs750595127
NM_000521.4(HEXB):c.1613+15_1613+18dup rs779273534
NM_000521.4(HEXB):c.1614-25_1614-7dup rs1554037306
NM_000521.4(HEXB):c.1614-8_1614-6dup rs1271274603
NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del) rs1554037322
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) rs727503961
NM_000521.4(HEXB):c.230_232del (p.Phe77del) rs1554034490
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del) rs760427424
NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del) rs1554034424
NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del) rs887796660
NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del) rs1554034426
NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del) rs745791892
NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del) rs1554034432
NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg) rs372194079
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys) rs1553616443
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg) rs1400183633
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1589del (p.Gln530fs) rs1553616552
NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?) rs1553616555
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) rs766316288
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val) rs1446633660
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del) rs774193477
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del) rs1553614280
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup) rs1553616276
NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del) rs1188925314
NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del) rs796052340
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del) rs886051447
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.3(CLN6):c.443T>A (p.Val148Asp) rs1555438678
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro) rs1344658850
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu) rs1555438267
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys) rs150363441
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter) rs1448520404
NM_018941.4(CLN8):c.-123-1G>C rs1554448791
NM_018941.4(CLN8):c.-131_-124+13del rs1554446821
NM_018941.4(CLN8):c.681T>A (p.Tyr227Ter) rs1554451561
NM_032380.5(GFM2):c.2230C>T (p.Arg744Ter) rs35080306
NM_032380.5(GFM2):c.2239dup (p.Thr747fs) rs1554037537

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