ClinVar Miner

List of variants studied for behavioral variant of frontotemporal dementia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) rs5763269 0.19153
NM_001377265.1(MAPT):c.220+2535A>G rs1800547 0.14618
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg) rs63750072 0.03830
NM_005235.3(ERBB4):c.2202+15A>G rs77836647 0.02566
NM_004082.5(DCTN1):c.34-11G>T rs73948789 0.01216
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln) rs57451017 0.00901
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_004082.5(DCTN1):c.2761-18C>T rs549475401 0.00209
NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile) rs116733906 0.00116
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=) rs75700262 0.00052
NM_004082.5(DCTN1):c.279+8C>T rs376401397 0.00046
NM_004960.4(FUS):c.336-19_336-18insG rs146048051 0.00036
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys) rs140066692 0.00019
NM_004082.5(DCTN1):c.3029+19G>A rs201665169 0.00018
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) rs186547381 0.00016
NM_000021.4(PSEN1):c.*390T>G rs200372973 0.00014
NM_004082.5(DCTN1):c.3345+13C>T rs376707439 0.00013
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 0.00012
NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly) rs187434401 0.00011
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val) rs377402921 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) rs201496204 0.00009
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln) rs151052060 0.00008
NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys) rs141670992 0.00007
NM_004082.5(DCTN1):c.1470C>T (p.Asp490=) rs199751168 0.00006
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr) rs145819459 0.00006
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) rs121912442 0.00004
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.1881G>A (p.Ser627=) rs115142761 0.00004
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro) rs753640366 0.00003
NM_004082.5(DCTN1):c.414+1G>A rs576198476 0.00003
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) rs377017892 0.00003
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu) rs751069902 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile) rs374996228 0.00001
NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser) rs372808221 0.00001
NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr) rs769512188 0.00001
NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val) rs545910781 0.00001
NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser) rs72466482 0.00001
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser) rs121912433
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) rs63750756
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn) rs148146325
NM_004960.4(FUS):c.518_523del
NM_004960.4(FUS):c.524-13dup rs755045476
NM_005235.3(ERBB4):c.1947-28dup rs57466272
NM_014845.6(FIG4):c.447-16delinsTT rs1776038653
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_031157.4(HNRNPA1):c.491-3dup rs202119045

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