ClinVar Miner

List of variants studied for hereditary dementia by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (231):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile) rs141777179 0.00041
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
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.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) rs146601335 0.00013
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys) rs1478180381 0.00006
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser) rs374211312 0.00004
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) rs150331990 0.00002
NM_000021.4(PSEN1):c.1315A>G (p.Ile439Val) rs63750249 0.00001
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) rs74315477 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter) rs796052335 0.00001
NM_002087.4(GRN):c.1145del (p.Thr382fs) rs63750805 0.00001
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu) rs756751089 0.00001
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)
NM_000021.4(PSEN1):c.656T>C (p.Leu219Pro) rs63750761
NM_000021.4(PSEN1):c.722T>C (p.Leu241Pro)
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala) rs199723282
NM_000021.4(PSEN1):c.869-1G>A rs63750219
NM_000033.4(ABCD1):c.1036A>G (p.Met346Val)
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.4(ABCD1):c.1528G>A (p.Gly510Ser)
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.896A>G (p.His299Arg) rs782430461
NM_000157.4(GBA1):c.370A>G (p.Met124Val)
NM_000157.4(GBA1):c.454+1G>A rs539166948
NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu)
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000447.3(PSEN2):c.16G>A (p.Ala6Thr)
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000487.6(ARSA):c.1360G>A (p.Val454Met)
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000521.4(HEXB):c.1061A>G (p.Asp354Gly) rs781244479
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
NM_001020658.2(PUM1):c.1448C>T (p.Ala483Val)
NM_001020658.2(PUM1):c.3242+2T>C
NM_001029896.2(WDR45):c.1045G>A (p.Asp349Asn)
NM_001029896.2(WDR45):c.456del (p.Ser153fs)
NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter) rs387907329
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del) rs1064793294
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe) rs1401497994
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.3256G>A (p.Glu1086Lys)
NM_001130823.3(DNMT1):c.3388G>A (p.Gly1130Arg)
NM_001130823.3(DNMT1):c.4711C>T (p.Arg1571Cys)
NM_001257180.2(SLC20A2):c.1438_1439del (p.Ala480fs)
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_001257180.2(SLC20A2):c.1933A>G (p.Met645Val)
NM_001257180.2(SLC20A2):c.857C>G (p.Pro286Arg) rs781554326
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=) rs63750912
NM_001378452.1(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_001378452.1(ITPR1):c.1918T>C (p.Ser640Pro)
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.5327G>T (p.Gly1776Val)
NM_001378452.1(ITPR1):c.7301C>T (p.Thr2434Ile)
NM_001378452.1(ITPR1):c.7345A>G (p.Ile2449Val)
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378452.1(ITPR1):c.823G>A (p.Ala275Thr)
NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro) rs2101995572
NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe) rs2101995530
NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg) rs2101995228
NM_001447.3(FAT2):c.436C>T (p.Pro146Ser)
NM_001909.5(CTSD):c.16C>T (p.Leu6Phe) rs1590909993
NM_001961.4(EEF2):c.1359G>A (p.Met453Ile) rs2145360047
NM_001961.4(EEF2):c.463C>A (p.Leu155Met)
NM_002087.4(GRN):c.1690C>T (p.Arg564Cys)
NM_002087.4(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.4(GRN):c.87_90dup (p.Cys31fs) rs63751057
NM_002608.4(PDGFB):c.70C>A (p.Pro24Thr)
NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg) rs866406014
NM_003560.4(PLA2G6):c.1069G>A (p.Ala357Thr) rs2145770192
NM_003560.4(PLA2G6):c.562A>G (p.Thr188Ala)
NM_003560.4(PLA2G6):c.710G>C (p.Arg237Pro)
NM_004115.4(FGF14):c.256C>T (p.His86Tyr)
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_005861.4(STUB1):c.3G>T (p.Met1Ile)
NM_005861.4(STUB1):c.737C>T (p.Thr246Met) rs587777343
NM_006796.3(AFG3L2):c.1168C>T (p.Arg390Ter)
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_006946.4(SPTBN2):c.1653+5C>T
NM_013254.4(TBK1):c.1856G>A (p.Trp619Ter)
NM_015215.4(CAMTA1):c.1514C>G (p.Ala505Gly)
NM_015215.4(CAMTA1):c.2072_2075del (p.Thr691fs)
NM_015215.4(CAMTA1):c.2860G>A (p.Ala954Thr)
NM_015215.4(CAMTA1):c.4618-1G>A
NM_018896.5(CACNA1G):c.1468T>G (p.Ser490Ala) rs2040529103
NM_018896.5(CACNA1G):c.3896A>G (p.Lys1299Arg)
NM_018896.5(CACNA1G):c.4051G>A (p.Gly1351Arg)
NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val) rs1555558553
NM_018896.5(CACNA1G):c.5438G>A (p.Arg1813Gln)
NM_018896.5(CACNA1G):c.5582_5590del (p.Ala1861_Glu1863del)
NM_018896.5(CACNA1G):c.6109C>T (p.Arg2037Trp)
NM_020702.5(MYORG):c.1788C>G (p.Tyr596Ter)
NM_020702.5(MYORG):c.1873G>T (p.Glu625Ter)
NM_020702.5(MYORG):c.841T>C (p.Tyr281His)
NM_021814.5(ELOVL5):c.246+3859C>G
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_024411.5(PDYN):c.630C>G (p.Phe210Leu)
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_025233.7(COASY):c.215A>G (p.Tyr72Cys)
NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu) rs752450983
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) rs515726204
NM_031448.6(C19orf12):c.302G>A (p.Trp101Ter)
NM_033109.5(PNPT1):c.2014-3C>G rs748445058

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