ClinVar Miner

List of variants reported as uncertain significance for Frontotemporal dementia

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Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr) rs143624519 0.00180
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr) rs63750096 0.00085
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser) rs150983093 0.00038
NM_001377265.1(MAPT):c.266C>G (p.Ala89Gly) rs139796158 0.00011
NM_001377265.1(MAPT):c.1364G>A (p.Ser455Asn) rs201458656 0.00008
NM_001377265.1(MAPT):c.1801C>T (p.Arg601Cys) rs138984221 0.00006
NM_001377265.1(MAPT):c.1802G>A (p.Arg601His) rs115492908 0.00006
NM_001377265.1(MAPT):c.220+2475G>A rs63751135 0.00006
NM_001377265.1(MAPT):c.80G>A (p.Gly27Glu) rs769331823 0.00006
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr) rs974837695 0.00004
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys) rs770274373 0.00004
NM_001377265.1(MAPT):c.220+2491C>T rs780582778 0.00004
NM_001377265.1(MAPT):c.232G>A (p.Gly78Ser) rs769901930 0.00004
NM_001377265.1(MAPT):c.2452G>A (p.Ala818Thr) rs764874119 0.00004
NM_001377265.1(MAPT):c.62G>T (p.Gly21Val) rs781076528 0.00004
NM_001377265.1(MAPT):c.1378G>A (p.Gly460Arg) rs569445345 0.00003
NM_001377265.1(MAPT):c.2035G>A (p.Val679Ile) rs149280278 0.00003
NM_001377265.1(MAPT):c.220+2490G>A rs371071165 0.00003
NM_001377265.1(MAPT):c.1355G>A (p.Arg452His) rs200710643 0.00002
NM_001377265.1(MAPT):c.1837C>T (p.Arg613Trp) rs374286863 0.00002
NM_001377265.1(MAPT):c.220+2503C>T rs138293088 0.00002
NM_001377265.1(MAPT):c.2446C>A (p.Gln816Lys) rs63750191 0.00002
NM_001377265.1(MAPT):c.25G>A (p.Glu9Lys) rs762595428 0.00002
NM_000021.4(PSEN1):c.808A>G (p.Met270Val) rs114317083 0.00001
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352 0.00001
NM_001377265.1(MAPT):c.1007C>T (p.Ala336Val) rs570884008 0.00001
NM_001377265.1(MAPT):c.121G>A (p.Ala41Thr) rs115239819 0.00001
NM_001377265.1(MAPT):c.134A>T (p.Glu45Val) rs764226855 0.00001
NM_001377265.1(MAPT):c.1351+5G>C rs1211967572 0.00001
NM_001377265.1(MAPT):c.1366A>G (p.Lys456Glu) rs762213614 0.00001
NM_001377265.1(MAPT):c.13C>T (p.Arg5Cys) rs766166210 0.00001
NM_001377265.1(MAPT):c.159G>C (p.Glu53Asp) rs1196222070 0.00001
NM_001377265.1(MAPT):c.1607G>A (p.Gly536Glu) rs116231676 0.00001
NM_001377265.1(MAPT):c.1673C>T (p.Ala558Val) rs748313206 0.00001
NM_001377265.1(MAPT):c.1777G>A (p.Gly593Ser) rs749091697 0.00001
NM_001377265.1(MAPT):c.1795G>A (p.Gly599Ser) rs771662961 0.00001
NM_001377265.1(MAPT):c.1808G>A (p.Arg603His) rs780895519 0.00001
NM_001377265.1(MAPT):c.1814C>T (p.Pro605Leu) rs1472402760 0.00001
NM_001377265.1(MAPT):c.1838G>A (p.Arg613Gln) rs779901466 0.00001
NM_001377265.1(MAPT):c.1918G>A (p.Val640Met) rs369217369 0.00001
NM_001377265.1(MAPT):c.1985C>T (p.Pro662Leu) rs1047467075 0.00001
NM_001377265.1(MAPT):c.1993G>A (p.Gly665Arg) rs1247408229 0.00001
NM_001377265.1(MAPT):c.2086G>A (p.Gly696Ser) rs780862453 0.00001
NM_001377265.1(MAPT):c.2091+19C>G rs63750162 0.00001
NM_001377265.1(MAPT):c.220+2531G>A rs776803332 0.00001
NM_001377265.1(MAPT):c.2312G>A (p.Arg771His) rs1568347450 0.00001
NM_001377265.1(MAPT):c.2404A>C (p.Asn802His) rs777148159 0.00001
NM_001377265.1(MAPT):c.2416A>G (p.Thr806Ala) rs780581192 0.00001
NM_001377265.1(MAPT):c.2419G>A (p.Gly807Ser) rs768841567 0.00001
NM_001377265.1(MAPT):c.2428G>A (p.Asp810Asn) rs748310006 0.00001
NM_001377265.1(MAPT):c.2456C>T (p.Thr819Met) rs63750991 0.00001
NM_001377265.1(MAPT):c.2467G>A (p.Glu823Lys) rs769851761 0.00001
NM_001377265.1(MAPT):c.258A>C (p.Glu86Asp) rs2072603923 0.00001
NM_001377265.1(MAPT):c.262G>A (p.Glu88Lys) rs373705830 0.00001
NM_001377265.1(MAPT):c.31A>C (p.Met11Leu) rs1262800598 0.00001
NM_001377265.1(MAPT):c.60G>C (p.Leu20Phe) rs1430583458 0.00001
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile) rs374996228 0.00001
NM_002087.3(GRN):c.-173C>T rs886053004 0.00001
NM_014043.4(CHMP2B):c.*1641A>C rs886058912 0.00001
NM_020814.3(MARCHF4):c.631A>G (p.Lys211Glu) rs756981946 0.00001
NC_000017.10:g.(?_43861911)_(44159928_?)del
NC_000017.10:g.(?_44039704)_(44101537_?)dup
NM_001377265.1(MAPT):c.1367A>G (p.Lys456Arg)
NM_001377265.1(MAPT):c.1375G>A (p.Asp459Asn) rs2509852110
NM_001377265.1(MAPT):c.1607G>C (p.Gly536Ala) rs116231676
NM_001377265.1(MAPT):c.1629C>G (p.Ile543Met) rs759212591
NM_001377265.1(MAPT):c.1652C>T (p.Pro551Leu) rs780585825
NM_001377265.1(MAPT):c.1670A>C (p.Gln557Pro)
NM_001377265.1(MAPT):c.1678G>A (p.Ala560Thr) rs773178106
NM_001377265.1(MAPT):c.1700C>T (p.Thr567Ile) rs2509917869
NM_001377265.1(MAPT):c.1703C>T (p.Pro568Leu) rs1273925499
NM_001377265.1(MAPT):c.1733-3del rs2074473044
NM_001377265.1(MAPT):c.1749_1750del (p.Asp585fs) rs2145830963
NM_001377265.1(MAPT):c.1757G>A (p.Arg586His)
NM_001377265.1(MAPT):c.1762G>A (p.Gly588Ser) rs1400315970
NM_001377265.1(MAPT):c.179G>T (p.Gly60Val)
NM_001377265.1(MAPT):c.1802G>T (p.Arg601Leu) rs115492908
NM_001377265.1(MAPT):c.1811C>A (p.Thr604Asn) rs763356972
NM_001377265.1(MAPT):c.1831C>T (p.Pro611Ser) rs1598326219
NM_001377265.1(MAPT):c.1834A>C (p.Thr612Pro) rs1598326279
NM_001377265.1(MAPT):c.1873C>A (p.Pro625Thr) rs2509986129
NM_001377265.1(MAPT):c.1900C>T (p.Arg634Cys) rs2509987046
NM_001377265.1(MAPT):c.1918G>C (p.Val640Leu) rs369217369
NM_001377265.1(MAPT):c.1957G>A (p.Gly653Ser) rs1342068350
NM_001377265.1(MAPT):c.1982A>T (p.Gln661Leu) rs2074495003
NM_001377265.1(MAPT):c.1999-9C>G rs2510146501
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_001377265.1(MAPT):c.2015A>G (p.Lys672Arg)
NM_001377265.1(MAPT):c.201G>C (p.Lys67Asn)
NM_001377265.1(MAPT):c.2078C>G (p.Pro693Arg) rs63751273
NM_001377265.1(MAPT):c.2091+11T>G rs63751394
NM_001377265.1(MAPT):c.2097A>C (p.Gln699His) rs2510187693
NM_001377265.1(MAPT):c.2101G>T (p.Val701Phe) rs2510187753
NM_001377265.1(MAPT):c.2126A>C (p.Lys709Thr)
NM_001377265.1(MAPT):c.2173+4G>A rs2076012501
NM_001377265.1(MAPT):c.2173G>T (p.Gly725Ter) rs2076012350
NM_001377265.1(MAPT):c.2174-5T>A rs2510233672
NM_001377265.1(MAPT):c.220+2437_220+2438insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAATCTCGGTGGTTTCT
NM_001377265.1(MAPT):c.220+2451C>G rs760729741
NM_001377265.1(MAPT):c.220+2487G>C
NM_001377265.1(MAPT):c.220+5del rs2509593495
NM_001377265.1(MAPT):c.2228A>G (p.Gln743Arg) rs1568339821
NM_001377265.1(MAPT):c.2258C>A (p.Thr753Asn)
NM_001377265.1(MAPT):c.2286+6G>T rs2076343277
NM_001377265.1(MAPT):c.233G>A (p.Gly78Asp) rs144397565
NM_001377265.1(MAPT):c.233G>T (p.Gly78Val) rs144397565
NM_001377265.1(MAPT):c.2344G>A (p.Ala782Thr) rs2146224075
NM_001377265.1(MAPT):c.2350A>G (p.Ile784Val) rs991713081
NM_001377265.1(MAPT):c.235A>G (p.Ile79Val) rs2145574715
NM_001377265.1(MAPT):c.251G>C (p.Ser84Thr) rs2509702788
NM_001377265.1(MAPT):c.286+4A>G
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val) rs755131800
NM_001377265.1(MAPT):c.4G>T (p.Ala2Ser) rs2509439219
NM_001377265.1(MAPT):c.630_640del (p.Phe211fs) rs768990943
NM_001377265.1(MAPT):c.89_90delinsAA (p.Thr30Lys) rs2509443882
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del) rs754862784
NM_002087.4(GRN):c.393C>T (p.Phe131=) rs149180605
NM_002397.5(MEF2C):c.-208del rs886060864
NM_006087.4(TUBB4A):c.702del (p.Ser234fs)
NM_007375.4(TARDBP):c.*1597_*1600del rs748047297
NM_007375.4(TARDBP):c.*1633del rs886045043
NM_007375.4(TARDBP):c.*2538del rs886045050
NM_007375.4(TARDBP):c.*2829dup rs886045051
NM_007375.4(TARDBP):c.*505del rs886045038
NM_014043.3(CHMP2B):c.-259C>A rs538600777
NM_014043.4(CHMP2B):c.*1008_*1011del rs886058911
NM_014043.4(CHMP2B):c.*106dup rs368297778
NM_014043.4(CHMP2B):c.*92dup rs886058906
NM_014043.4(CHMP2B):c.*955_*960del rs886058909

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