ClinVar Miner

List of variants reported as benign for distal myopathy with posterior leg and anterior hand involvement

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 183
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001458.5(FLNC):c.4404T>C (p.Asp1468=) rs2249128 0.99086
NM_001458.5(FLNC):c.5398+16T>C rs13227216 0.32203
NM_001458.5(FLNC):c.3973C>T (p.Leu1325=) rs34373805 0.28610
NM_001458.5(FLNC):c.3297A>G (p.Val1099=) rs3734973 0.28603
NM_001458.5(FLNC):c.5763T>C (p.Thr1921=) rs3816884 0.18399
NM_001458.5(FLNC):c.2265+12C>G rs2291566 0.17192
NM_001458.5(FLNC):c.7221C>T (p.Asp2407=) rs3816885 0.15729
NM_001458.5(FLNC):c.4431G>A (p.Leu1477=) rs2291568 0.15512
NM_001458.5(FLNC):c.1032C>T (p.Val344=) rs2291562 0.12206
NM_001458.5(FLNC):c.1458C>A (p.Pro486=) rs2291563 0.11830
NM_001458.5(FLNC):c.720T>C (p.Ile240=) rs2291560 0.11080
NM_001458.5(FLNC):c.795T>C (p.Gly265=) rs2291561 0.10971
NM_001458.5(FLNC):c.147C>T (p.His49=) rs3734972 0.09267
NM_001458.5(FLNC):c.4056C>T (p.Arg1352=) rs75770585 0.08775
NM_001458.5(FLNC):c.850+18G>A rs55907818 0.08058
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=) rs35281128 0.06868
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln) rs2291569 0.06258
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=) rs34180031 0.03419
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=) rs76046880 0.02993
NM_001458.5(FLNC):c.2390-13C>T rs78086167 0.02800
NM_001458.5(FLNC):c.5669-12C>T rs79790270 0.02786
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=) rs28437296 0.01520
NM_001458.5(FLNC):c.1374C>T (p.Pro458=) rs115140972 0.01514
NM_001458.5(FLNC):c.8118C>T (p.Leu2706=) rs28379666 0.01465
NM_001458.5(FLNC):c.6004+19G>A rs12530507 0.01231
NM_001458.5(FLNC):c.2266-14G>C rs75612085 0.01030
NM_001458.5(FLNC):c.4302C>T (p.Arg1434=) rs114697352 0.00988
NM_001458.5(FLNC):c.4404= (p.Asp1468=) rs2249128 0.00914
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00842
NM_001458.5(FLNC):c.3852C>T (p.Gly1284=) rs111337293 0.00743
NM_001458.5(FLNC):c.4289-4A>C rs140031589 0.00743
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_001458.5(FLNC):c.6004+11G>A rs117653869 0.00719
NM_001458.5(FLNC):c.352+10G>A rs79489893 0.00639
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_001458.5(FLNC):c.1902G>A (p.Glu634=) rs12536635 0.00414
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00403
NM_001458.5(FLNC):c.1425C>T (p.Asn475=) rs143610360 0.00297
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala) rs34972246 0.00297
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr) rs200502811 0.00291
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=) rs61737781 0.00283
NM_001458.5(FLNC):c.7780+10A>G rs201149834 0.00281
NM_001458.5(FLNC):c.4737+15A>G rs182734223 0.00252
NM_001458.5(FLNC):c.2889G>A (p.Pro963=) rs191892345 0.00212
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00178
NM_001458.5(FLNC):c.2390-9T>C rs368068407 0.00168
NM_001458.5(FLNC):c.8049C>T (p.Tyr2683=) rs183104951 0.00165
NM_001458.5(FLNC):c.6991G>A (p.Val2331Met) rs191288058 0.00156
NM_001458.5(FLNC):c.2389+12C>T rs370526829 0.00151
NM_001458.5(FLNC):c.4456+14G>A rs375227447 0.00144
NM_001458.5(FLNC):c.6714C>T (p.Thr2238=) rs10268251 0.00143
NM_001458.5(FLNC):c.3861C>T (p.His1287=) rs375986462 0.00142
NM_001458.5(FLNC):c.5262C>T (p.Tyr1754=) rs369165766 0.00139
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) rs34932223 0.00138
NM_001458.5(FLNC):c.1698C>T (p.Ser566=) rs112194548 0.00137
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met) rs75133741 0.00136
NM_001458.5(FLNC):c.2122-17T>C rs144828462 0.00135
NM_001458.5(FLNC):c.6459C>T (p.Thr2153=) rs113618587 0.00135
NM_001458.5(FLNC):c.6005-9T>C rs118124743 0.00133
NM_001458.5(FLNC):c.1813+11G>T rs138716837 0.00126
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 0.00124
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=) rs201069454 0.00119
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) rs376992044 0.00116
NM_001458.5(FLNC):c.4581-5T>A rs368660628 0.00111
NM_001458.5(FLNC):c.3000T>C (p.Asp1000=) rs184454068 0.00110
NM_001458.5(FLNC):c.6998-5C>T rs139030003 0.00106
NM_001458.5(FLNC):c.6362-17C>G rs368901431 0.00094
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=) rs376078394 0.00090
NM_001458.5(FLNC):c.7185C>T (p.Ser2395=) rs199880128 0.00090
NM_001458.5(FLNC):c.7947C>T (p.Phe2649=) rs368849358 0.00083
NM_001458.5(FLNC):c.7990+9C>T rs566679569 0.00077
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) rs149641783 0.00068
NM_001458.5(FLNC):c.4456+13C>T rs200456962 0.00065
NM_001458.5(FLNC):c.3621C>T (p.Asn1207=) rs117864464 0.00063
NM_001458.5(FLNC):c.2390-8C>G rs146063718 0.00057
NM_001458.5(FLNC):c.5200-18C>T rs372184893 0.00052
NM_001458.5(FLNC):c.3757G>A (p.Val1253Ile) rs117366477 0.00051
NM_001458.5(FLNC):c.5540-20C>T rs556203733 0.00048
NM_001458.5(FLNC):c.5592C>T (p.Ala1864=) rs117517372 0.00048
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=) rs200237564 0.00045
NM_001458.5(FLNC):c.7281G>A (p.Ala2427=) rs186451916 0.00043
NM_001458.5(FLNC):c.4457-19C>G rs369731117 0.00041
NM_001458.5(FLNC):c.699+9G>A rs749055253 0.00041
NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe) rs180834558 0.00041
NM_001458.5(FLNC):c.4952-10C>T rs142611699 0.00040
NM_001458.5(FLNC):c.5764G>A (p.Ala1922Thr) rs202128602 0.00040
NM_001458.5(FLNC):c.6120C>T (p.Asp2040=) rs116974302 0.00039
NM_001458.5(FLNC):c.5843-6C>G rs370264663 0.00036
NM_001458.5(FLNC):c.7533C>T (p.Tyr2511=) rs376806697 0.00035
NM_001458.5(FLNC):c.3964+9C>T rs200448727 0.00033
NM_001458.5(FLNC):c.2568C>T (p.Pro856=) rs201611050 0.00032
NM_001458.5(FLNC):c.5070C>T (p.Leu1690=) rs202027738 0.00031
NM_001458.5(FLNC):c.5842+17G>A rs374289007 0.00029
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys) rs200792813 0.00024
NM_001458.5(FLNC):c.5889G>A (p.Thr1963=) rs374743518 0.00021
NM_001458.5(FLNC):c.4125C>T (p.Thr1375=) rs191931963 0.00019
NM_001458.5(FLNC):c.6888C>T (p.His2296=) rs375259002 0.00017
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys) rs200206944 0.00016
NM_001458.5(FLNC):c.2686G>A (p.Gly896Arg) rs200215903 0.00016
NM_001458.5(FLNC):c.1608G>A (p.Glu536=) rs549086803 0.00012
NM_001458.5(FLNC):c.5127C>T (p.Pro1709=) rs540345016 0.00012
NM_001458.5(FLNC):c.5892C>T (p.Asp1964=) rs747546440 0.00011
NM_001458.5(FLNC):c.1813+12G>A rs750404224 0.00010
NM_001458.5(FLNC):c.2841C>T (p.Gly947=) rs547060988 0.00010
NM_001458.5(FLNC):c.602-11C>T rs371111092 0.00010
NM_001458.5(FLNC):c.1605C>T (p.Cys535=) rs199976790 0.00009
NM_001458.5(FLNC):c.4161C>T (p.Ile1387=) rs200288149 0.00009
NM_001458.5(FLNC):c.5842+8G>A rs781168906 0.00009
NM_001458.5(FLNC):c.3791-18G>A rs201845310 0.00008
NM_001458.5(FLNC):c.6988G>A (p.Gly2330Ser) rs527248119 0.00008
NM_001458.5(FLNC):c.3201T>G (p.Ala1067=) rs760214102 0.00007
NM_001458.5(FLNC):c.1200C>T (p.Ile400=) rs778565971 0.00006
NM_001458.5(FLNC):c.4927+15G>A rs200013064 0.00006
NM_001458.5(FLNC):c.5299-16C>T rs753681565 0.00006
NM_001458.5(FLNC):c.3138G>A (p.Pro1046=) rs369739262 0.00005
NM_001458.5(FLNC):c.3426C>T (p.Gly1142=) rs201313781 0.00005
NM_001458.5(FLNC):c.4140C>T (p.Thr1380=) rs183668401 0.00004
NM_001458.5(FLNC):c.6390C>T (p.Gly2130=) rs746751083 0.00004
NM_001458.5(FLNC):c.6977G>A (p.Arg2326Gln) rs201028676 0.00004
NM_001458.5(FLNC):c.777G>A (p.Lys259=) rs765604975 0.00004
NM_001458.5(FLNC):c.851-7C>A rs576908770 0.00004
NM_001458.5(FLNC):c.1953C>T (p.Asp651=) rs554570268 0.00003
NM_001458.5(FLNC):c.2239G>A (p.Val747Ile) rs764876916 0.00003
NM_001458.5(FLNC):c.2265+9T>C rs532692123 0.00003
NM_001458.5(FLNC):c.282A>G (p.Gln94=) rs772401033 0.00003
NM_001458.5(FLNC):c.5280C>T (p.Gly1760=) rs563285308 0.00003
NM_001458.5(FLNC):c.5910C>T (p.Thr1970=) rs544613263 0.00003
NM_001458.5(FLNC):c.7545C>T (p.Leu2515=) rs369791058 0.00003
NM_001458.5(FLNC):c.7562-5C>T rs773923745 0.00003
NM_001458.5(FLNC):c.1020T>C (p.Tyr340=) rs376514318 0.00002
NM_001458.5(FLNC):c.1365G>A (p.Ala455=) rs377345122 0.00002
NM_001458.5(FLNC):c.4707G>A (p.Ala1569=) rs541323590 0.00002
NM_001458.5(FLNC):c.4710C>T (p.Gly1570=) rs774692750 0.00002
NM_001458.5(FLNC):c.5376G>A (p.Ala1792=) rs758648462 0.00002
NM_001458.5(FLNC):c.7215G>A (p.Ser2405=) rs774019775 0.00002
NM_001458.5(FLNC):c.732C>T (p.Asn244=) rs566461523 0.00002
NM_001458.5(FLNC):c.1518C>T (p.Ser506=) rs368101036 0.00001
NM_001458.5(FLNC):c.1899G>A (p.Thr633=) rs553903798 0.00001
NM_001458.5(FLNC):c.2277C>T (p.Gly759=) rs534989876 0.00001
NM_001458.5(FLNC):c.2376C>T (p.Ser792=) rs754097557 0.00001
NM_001458.5(FLNC):c.3506A>G (p.Lys1169Arg) rs530742766 0.00001
NM_001458.5(FLNC):c.5955G>A (p.Ser1985=) rs777895128 0.00001
NM_001458.5(FLNC):c.6570C>T (p.Arg2190=) rs1184540221 0.00001
NM_001458.5(FLNC):c.7385-5C>T rs367793265 0.00001
NM_001458.5(FLNC):c.918C>T (p.Gly306=) rs200471132 0.00001
NM_001458.5(FLNC):c.1047+21dup
NM_001458.5(FLNC):c.1101C>T (p.Asn367=)
NM_001458.5(FLNC):c.1676+20dup rs751788846
NM_001458.5(FLNC):c.1773T>C (p.Asp591=)
NM_001458.5(FLNC):c.1813+16dup
NM_001458.5(FLNC):c.2046C>T (p.Cys682=)
NM_001458.5(FLNC):c.2148C>T (p.Ile716=)
NM_001458.5(FLNC):c.2199C>G (p.Thr733=) rs200655185
NM_001458.5(FLNC):c.2271C>T (p.Asn757=)
NM_001458.5(FLNC):c.2389+20del
NM_001458.5(FLNC):c.3309C>T (p.Cys1103=)
NM_001458.5(FLNC):c.3765C>A (p.Val1255=) rs556428588
NM_001458.5(FLNC):c.4029C>T (p.Gly1343=)
NM_001458.5(FLNC):c.4288+22_4288+23dup
NM_001458.5(FLNC):c.4288+7AG[3] rs780733285
NM_001458.5(FLNC):c.4299C>T (p.Phe1433=)
NM_001458.5(FLNC):c.4323G>A (p.Val1441=)
NM_001458.5(FLNC):c.4335G>A (p.Lys1445=)
NM_001458.5(FLNC):c.4456+16G>A rs543476754
NM_001458.5(FLNC):c.4737+9_4737+10del rs794727437
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg) rs193159707
NM_001458.5(FLNC):c.5295C>T (p.His1765=)
NM_001458.5(FLNC):c.5598G>A (p.Gly1866=)
NM_001458.5(FLNC):c.5763_5764inv (p.Ala1922Thr)
NM_001458.5(FLNC):c.5843-6dup
NM_001458.5(FLNC):c.5934C>T (p.Thr1978=)
NM_001458.5(FLNC):c.5949C>T (p.Ala1983=)
NM_001458.5(FLNC):c.6004+12dup rs755640637
NM_001458.5(FLNC):c.6525A>G (p.Thr2175=)
NM_001458.5(FLNC):c.6828G>A (p.Val2276=)
NM_001458.5(FLNC):c.6990C>T (p.Gly2330=)
NM_001458.5(FLNC):c.7110C>T (p.Gly2370=)
NM_001458.5(FLNC):c.7410C>T (p.Pro2470=)
NM_001458.5(FLNC):c.7483C>T (p.Arg2495Cys) rs374925943
NM_001458.5(FLNC):c.7781-9A>G rs531760477
NM_001458.5(FLNC):c.7990+15dup

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