ClinVar Miner

List of variants reported as likely benign for Frontotemporal dementia

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Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_014043.4(CHMP2B):c.*1503G>C rs1060238 0.03503
NM_014043.4(CHMP2B):c.*1190G>T rs115892684 0.02804
NM_007375.4(TARDBP):c.*208G>A rs148414479 0.02507
NM_007375.4(TARDBP):c.*2331A>G rs114897688 0.02160
NM_006610.4(MASP2):c.1617T>C (p.Asn539=) rs72550845 0.01301
NM_006610.4(MASP2):c.*184C>T rs115750484 0.00452
NM_001377265.1(MAPT):c.1628T>C (p.Ile543Thr) rs114635790 0.00217
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe) rs143956882 0.00160
NM_014043.4(CHMP2B):c.*899T>A rs186472338 0.00142
NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile) rs116733906 0.00116
NM_001377265.1(MAPT):c.50C>T (p.Thr17Met) rs144611688 0.00080
NM_001377265.1(MAPT):c.120C>T (p.Asp40=) rs191362093 0.00067
NM_020814.3(MARCHF4):c.39G>C (p.Trp13Cys) rs145386484 0.00032
NM_001377265.1(MAPT):c.54C>T (p.Tyr18=) rs63750811 0.00024
NM_000306.4(POU1F1):c.666-6C>T rs201995103 0.00019
NM_001377265.1(MAPT):c.1998+15C>T rs749726538 0.00019
NM_001377265.1(MAPT):c.273T>C (p.Gly91=) rs141556635 0.00019
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_001377265.1(MAPT):c.1854G>A (p.Val618=) rs114900761 0.00018
NM_001377265.1(MAPT):c.2262C>T (p.His754=) rs747658161 0.00013
NM_001377265.1(MAPT):c.2349G>A (p.Glu783=) rs142776675 0.00011
NM_001377265.1(MAPT):c.2079G>A (p.Pro693=) rs63751395 0.00010
NM_001377265.1(MAPT):c.1137C>T (p.His379=) rs142283842 0.00009
NM_001377265.1(MAPT):c.1623G>A (p.Thr541=) rs139748238 0.00009
NM_001377265.1(MAPT):c.1938G>A (p.Lys646=) rs141636979 0.00009
NM_001377265.1(MAPT):c.2271C>T (p.Gly757=) rs148501218 0.00007
NM_001377265.1(MAPT):c.220+2480G>A rs368318765 0.00006
NM_001377265.1(MAPT):c.2451C>T (p.Leu817=) rs200637464 0.00005
NM_001377265.1(MAPT):c.1453C>T (p.Leu485Phe) rs199759929 0.00004
NM_001377265.1(MAPT):c.1638G>A (p.Pro546=) rs201046056 0.00004
NM_001377265.1(MAPT):c.1733-12C>T rs373115116 0.00004
NM_001377265.1(MAPT):c.177G>A (p.Pro59=) rs370131551 0.00004
NM_001377265.1(MAPT):c.1881G>A (p.Ser627=) rs115142761 0.00004
NM_001377265.1(MAPT):c.220+2450A>G rs773274633 0.00004
NM_001377265.1(MAPT):c.2319C>T (p.Asn773=) rs746312281 0.00004
NM_001377265.1(MAPT):c.42C>T (p.His14=) rs759306195 0.00004
NM_001377265.1(MAPT):c.1377C>T (p.Asp459=) rs371173110 0.00003
NM_001377265.1(MAPT):c.1707C>T (p.Pro569=) rs750910229 0.00003
NM_001377265.1(MAPT):c.1767C>T (p.Tyr589=) rs750316359 0.00003
NM_001377265.1(MAPT):c.2034C>T (p.Asn678=) rs779043983 0.00003
NM_001377265.1(MAPT):c.1632C>A (p.Ala544=) rs757701420 0.00002
NM_001377265.1(MAPT):c.1866T>C (p.Arg622=) rs778876874 0.00002
NM_001377265.1(MAPT):c.1884G>A (p.Pro628=) rs145897970 0.00002
NM_001377265.1(MAPT):c.2346G>A (p.Ala782=) rs771974951 0.00002
NM_001377265.1(MAPT):c.2418C>T (p.Thr806=) rs749816245 0.00002
NM_001377265.1(MAPT):c.36A>G (p.Glu12=) rs375852870 0.00002
NM_001377265.1(MAPT):c.969A>C (p.Thr323=) rs781607136 0.00002
NM_001377265.1(MAPT):c.1023C>G (p.Pro341=) rs1382449748 0.00001
NM_001377265.1(MAPT):c.1356C>A (p.Arg452=) rs776028517 0.00001
NM_001377265.1(MAPT):c.1407+18C>T rs957054703 0.00001
NM_001377265.1(MAPT):c.1417C>T (p.Arg473Cys) rs986393575 0.00001
NM_001377265.1(MAPT):c.1776C>T (p.Pro592=) rs201057449 0.00001
NM_001377265.1(MAPT):c.18G>A (p.Gln6=) rs769584478 0.00001
NM_001377265.1(MAPT):c.1956C>T (p.Ile652=) rs753776994 0.00001
NM_001377265.1(MAPT):c.2173+9G>C rs979650971 0.00001
NM_001377265.1(MAPT):c.220+2538C>G rs368845248 0.00001
NM_001377265.1(MAPT):c.2313C>T (p.Arg771=) rs373462041 0.00001
NM_001377265.1(MAPT):c.2364G>A (p.Ser788=) rs377720312 0.00001
NM_001377265.1(MAPT):c.261C>T (p.Asp87=) rs768654750 0.00001
NM_001377265.1(MAPT):c.973G>A (p.Ala325Thr) rs770014302 0.00001
NM_000306.4(POU1F1):c.*139dup rs368061882
NM_001377265.1(MAPT):c.133+7G>A
NM_001377265.1(MAPT):c.134-20G>C
NM_001377265.1(MAPT):c.1407+10C>T
NM_001377265.1(MAPT):c.1407+11G>A
NM_001377265.1(MAPT):c.153C>A (p.Pro51=)
NM_001377265.1(MAPT):c.1606-18A>G
NM_001377265.1(MAPT):c.1606-19T>C
NM_001377265.1(MAPT):c.1629C>T (p.Ile543=) rs759212591
NM_001377265.1(MAPT):c.1677C>T (p.Asn559=)
NM_001377265.1(MAPT):c.1704G>T (p.Pro568=) rs1052551
NM_001377265.1(MAPT):c.1732+8_1732+10del rs745595533
NM_001377265.1(MAPT):c.1733-14T>C rs2145830502
NM_001377265.1(MAPT):c.1733-5C>T
NM_001377265.1(MAPT):c.1749A>C (p.Ser583=)
NM_001377265.1(MAPT):c.1752G>A (p.Gly584=)
NM_001377265.1(MAPT):c.177G>C (p.Pro59=) rs370131551
NM_001377265.1(MAPT):c.1794C>T (p.Pro598=)
NM_001377265.1(MAPT):c.1815G>A (p.Pro605=)
NM_001377265.1(MAPT):c.1890C>T (p.Ser630=)
NM_001377265.1(MAPT):c.1992C>T (p.Gly664=)
NM_001377265.1(MAPT):c.1995G>C (p.Gly665=)
NM_001377265.1(MAPT):c.1998+19G>A
NM_001377265.1(MAPT):c.1998+20C>T
NM_001377265.1(MAPT):c.1999-6C>A
NM_001377265.1(MAPT):c.2091+17G>A
NM_001377265.1(MAPT):c.2092-18C>A
NM_001377265.1(MAPT):c.216G>A (p.Ala72=)
NM_001377265.1(MAPT):c.220+2477C>A
NM_001377265.1(MAPT):c.2205G>A (p.Lys735=)
NM_001377265.1(MAPT):c.2232G>C (p.Ser744=)
NM_001377265.1(MAPT):c.2268T>C (p.Pro756=)
NM_001377265.1(MAPT):c.2287-12C>T
NM_001377265.1(MAPT):c.2313C>A (p.Arg771=) rs373462041
NM_001377265.1(MAPT):c.2328C>T (p.Ala776=)
NM_001377265.1(MAPT):c.2436A>C (p.Val812=)
NM_001377265.1(MAPT):c.2445C>G (p.Pro815=)
NM_001377265.1(MAPT):c.39T>C (p.Asp13=)
NM_001377265.1(MAPT):c.58T>C (p.Leu20=)
NM_001377265.1(MAPT):c.756C>T (p.Asp252=) rs1358418932
NM_007375.4(TARDBP):c.-12-10_-12-9del rs575825467

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