ClinVar Miner

List of variants studied for hereditary dementia by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (231):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000487.6(ARSA):c.902G>A (p.Arg301Gln) rs573456864 0.00003
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441 0.00002
NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe) rs760307559 0.00001
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys) rs747506979 0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp) rs1141814 0.00001
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) rs398123532 0.00001
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys) rs28940573 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter) rs199476373 0.00001
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) rs759157781 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000520.6(HEXA):c.805+1G>C rs121907980 0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) rs138914144 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_006946.4(SPTBN2):c.6736G>A (p.Val2246Met) rs369469000 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_031157.4(HNRNPA1):c.1099G>A (p.Gly367Ser) rs772603507 0.00001
NC_000001.11:g.155208308_155208441del
NC_000015.10:g.72647900_72648958del
NM_000021.4(PSEN1):c.514TTG[1] (p.Leu174del) rs1595026031
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn) rs864309520
NM_000157.3(GBA1):c.[1197G>T];[1603C>T]
NM_000157.3(GBA1):c.[1448T>C];[167T>G]
NM_000157.3(GBA1):c.[1448T>C];[407C>T]
NM_000157.4(GBA1):c.1177C>G (p.Leu393Val) rs878853315
NM_000157.4(GBA1):c.1397T>G (p.Ile466Ser) rs878853320
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.1459G>A (p.Ala487Thr) rs878853317
NM_000157.4(GBA1):c.160G>T (p.Val54Leu) rs121908302
NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)
NM_000157.4(GBA1):c.415G>C (p.Ala139Pro) rs878853314
NM_000157.4(GBA1):c.444del (p.Ser149fs)
NM_000157.4(GBA1):c.44T>C (p.Leu15Ser)
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter) rs867929413
NM_000157.4(GBA1):c.866G>C (p.Gly289Ala) rs878853321
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_000391.4(TPP1):c.130G>T (p.Glu44Ter) rs2134598107
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser) rs864309505
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter) rs2134590423
NM_000391.4(TPP1):c.184del (p.Ser62fs) rs1554902217
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser) rs869025274
NM_000391.4(TPP1):c.457_490del (p.Ser153fs) rs878855331
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter) rs553522118
NM_000391.4(TPP1):c.689del (p.Phe230fs) rs1554901898
NM_000484.4(APP):c.2155A>C (p.Thr719Pro) rs2146237857
NM_000487.6(ARSA):c.1030del (p.Ala344fs)
NM_000487.6(ARSA):c.374A>C (p.Lys125Thr)
NM_000487.6(ARSA):c.582del (p.Trp195fs) rs2082680996
NM_000487.6(ARSA):c.620C>A (p.Ala207Asp) rs759098239
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.891_895del (p.Gly298fs)
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000520.6(HEXA):c.110dup (p.Tyr37Ter)
NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro) rs1057519464
NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro) rs370266293
NM_000520.6(HEXA):c.1259G>A (p.Trp420Ter) rs1057519465
NM_000520.6(HEXA):c.1349del (p.Ala450fs) rs1057519466
NM_000520.6(HEXA):c.1360G>C (p.Gly454Arg) rs121907978
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg) rs1057519467
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.161C>T (p.Ala54Val)
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.426del (p.Phe142fs) rs1057519458
NM_000520.6(HEXA):c.459+4A>C rs1057519459
NM_000520.6(HEXA):c.460-1G>A rs764343937
NM_000520.6(HEXA):c.524A>C (p.Asp175Ala) rs1057519460
NM_000520.6(HEXA):c.616G>C (p.Val206Leu) rs543071358
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.898_905del (p.Phe300fs) rs1057519463
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter) rs1007338250
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter) rs761117459
NM_000521.4(HEXB):c.445+1G>C rs761197472
NM_001080414.4(CCDC88C):c.6035C>T (p.Pro2012Leu) rs771028975
NM_001080414.4(CCDC88C):c.739G>A (p.Glu247Lys)
NM_001378969.1(KCND3):c.257G>A (p.Arg86Gln) rs1571941606
NM_001386393.1(PANK2):c.*40G>C rs1131692166
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter) rs137852960
NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg) rs2146859529
NM_002778.4(PSAP):c.593G>A (p.Cys198Tyr)
NM_002778.4(PSAP):c.688T>G (p.Cys230Gly)
NM_004977.3(KCNC3):c.1850C>T (p.Pro617Leu) rs1284948650
NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln)
NM_015215.4(CAMTA1):c.550G>A (p.Ala184Thr)
NM_022089.4(ATP13A2):c.859G>A (p.Asp287Asn) rs764560082
NM_031448.6(C19orf12):c.244C>A (p.Pro82Thr)
NM_031448.6(C19orf12):c.332T>C (p.Val111Ala) rs1972173461
NM_031448.6(C19orf12):c.415T>C (p.Tyr139His)
NM_031448.6(C19orf12):c.46T>C (p.Ser16Pro) rs1568332606
NM_033305.3(VPS13A):c.555+1G>A rs1590003601

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