ClinVar Miner

List of variants reported as likely benign for autosomal dominant distal myopathy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=) rs61232800 0.02248
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_001267550.2(TTN):c.53288-18G>T rs72646810 0.00643
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=) rs72647878 0.00261
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met) rs144539321 0.00200
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00178
NM_001458.5(FLNC):c.2390-9T>C rs368068407 0.00168
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_001267550.2(TTN):c.32555-6T>C rs375742678 0.00129
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
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_001145809.2(MYH14):c.563-17C>A rs201570558 0.00116
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.7185C>T (p.Ser2395=) rs199880128 0.00090
NM_133379.5(TTN):c.13045C>A (p.Pro4349Thr) rs140064945 0.00089
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748 0.00086
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) rs201432372 0.00083
NM_001267550.2(TTN):c.40927+16C>T rs369965589 0.00065
NM_001368067.1(LDB3):c.780C>T (p.Asn260=) rs372789789 0.00061
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) rs149127072 0.00059
NM_133379.5(TTN):c.10920T>C (p.Ser3640=) rs142585268 0.00059
NM_006790.3(MYOT):c.1190+12A>G rs183456886 0.00055
NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr) rs147042608 0.00051
NM_133379.5(TTN):c.10617T>C (p.His3539=) rs200284932 0.00042
NM_001458.5(FLNC):c.5070C>T (p.Leu1690=) rs202027738 0.00031
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=) rs371945519 0.00030
NM_001458.5(FLNC):c.1026C>T (p.Pro342=) rs200633995 0.00023
NM_001267550.2(TTN):c.40634-10T>A rs375097334 0.00021
NM_001458.5(FLNC):c.5889G>A (p.Thr1963=) rs374743518 0.00021
NM_001267550.2(TTN):c.10977G>A (p.Ala3659=) rs369327691 0.00020
NM_133379.5(TTN):c.13614A>C (p.Gln4538His) rs139344272 0.00019
NM_001267550.2(TTN):c.38627-16A>G rs1014728001 0.00018
NM_007078.3(LDB3):c.1858-10T>C rs202208256 0.00017
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=) rs367958537 0.00016
NM_001458.5(FLNC):c.7136-6C>A rs368292177 0.00015
NM_001267550.2(TTN):c.15333C>T (p.Asp5111=) rs368695667 0.00014
NM_001267550.2(TTN):c.78991C>A (p.Arg26331=) rs779996703 0.00013
NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys) rs556541366 0.00012
NM_001267550.2(TTN):c.107082G>A (p.Leu35694=) rs727505278 0.00012
NM_001267550.2(TTN):c.100766-11T>C rs761345673 0.00011
NM_001267550.2(TTN):c.25063+18C>T rs541890371 0.00011
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=) rs201380749 0.00011
NM_001267550.2(TTN):c.78063C>T (p.Pro26021=) rs72648204 0.00011
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu) rs537578226 0.00010
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=) rs542575761 0.00009
NM_001267550.2(TTN):c.29325C>T (p.Asn9775=) rs377442695 0.00009
NM_001267550.2(TTN):c.36159G>A (p.Thr12053=) rs773862719 0.00009
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=) rs531445644 0.00009
NM_001267550.2(TTN):c.90642A>T (p.Ala30214=) rs552314114 0.00009
NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys) rs141616435 0.00009
NM_001458.5(FLNC):c.7434C>T (p.Ile2478=) rs773767211 0.00008
NM_001267550.2(TTN):c.64326G>A (p.Ala21442=) rs377109969 0.00007
NM_001267550.2(TTN):c.107364C>T (p.Ser35788=) rs1057521273 0.00006
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys) rs754885396 0.00006
NM_001267550.2(TTN):c.27050-6G>A rs765624428 0.00006
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563 0.00006
NM_001267550.2(TTN):c.70380G>A (p.Leu23460=) rs185660043 0.00006
NM_001458.5(FLNC):c.651C>T (p.Asn217=) rs370425863 0.00006
NM_007078.3(LDB3):c.1231+19G>A rs763969244 0.00006
NM_001267550.2(TTN):c.30717A>C (p.Lys10239Asn) rs553520141 0.00005
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=) rs755839294 0.00005
NM_001267550.2(TTN):c.60221-19T>C rs533551256 0.00005
NM_001267550.2(TTN):c.99039T>C (p.Asp33013=) rs1037997977 0.00005
NM_001267550.2(TTN):c.39818-9T>C rs368834130 0.00004
NM_001267550.2(TTN):c.49008G>A (p.Val16336=) rs781078888 0.00004
NM_001267550.2(TTN):c.51735C>T (p.Pro17245=) rs747557917 0.00004
NM_001267550.2(TTN):c.57501T>C (p.Asn19167=) rs780536141 0.00004
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=) rs143265948 0.00004
NM_001267550.2(TTN):c.62802T>C (p.Tyr20934=) rs762414876 0.00004
NM_001267550.2(TTN):c.6489C>T (p.His2163=) rs762045402 0.00004
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=) rs368525666 0.00004
NM_001267550.2(TTN):c.94230C>T (p.Ser31410=) rs373502790 0.00004
NM_001458.5(FLNC):c.4650C>T (p.Asn1550=) rs547733871 0.00004
NM_001267550.2(TTN):c.105141G>A (p.Glu35047=) rs752897450 0.00003
NM_001267550.2(TTN):c.13371C>T (p.Ile4457=) rs570991398 0.00003
NM_001267550.2(TTN):c.39895+16del rs761838184 0.00003
NM_001267550.2(TTN):c.44916T>A (p.Val14972=) rs373390402 0.00003
NM_001267550.2(TTN):c.55206C>A (p.Ile18402=) rs368272978 0.00003
NM_001267550.2(TTN):c.57848-4G>A rs369462016 0.00003
NM_007078.3(LDB3):c.1962G>A (p.Glu654=) rs201063130 0.00003
NM_133379.5(TTN):c.14790C>G (p.Val4930=) rs370038956 0.00003
NM_001267550.2(TTN):c.1332C>T (p.Ser444=) rs759520186 0.00002
NM_001267550.2(TTN):c.2160T>G (p.Pro720=) rs776860277 0.00002
NM_001267550.2(TTN):c.36281-13A>T rs751095834 0.00002
NM_001267550.2(TTN):c.36532+13G>A rs758624046 0.00002
NM_001267550.2(TTN):c.43656G>A (p.Ser14552=) rs376851369 0.00002
NM_001267550.2(TTN):c.5583C>T (p.Arg1861=) rs368972275 0.00002
NM_001267550.2(TTN):c.60003G>A (p.Pro20001=) rs753118050 0.00002
NM_001267550.2(TTN):c.63793+9del rs771033923 0.00002
NM_001267550.2(TTN):c.80898T>C (p.Ser26966=) rs374042845 0.00002
NM_001267550.2(TTN):c.84633T>C (p.Asp28211=) rs1211159517 0.00002
NM_001458.5(FLNC):c.5580C>G (p.Arg1860=) rs955205184 0.00002
NM_001267550.2(TTN):c.11085C>T (p.His3695=) rs774236128 0.00001
NM_001267550.2(TTN):c.15981C>T (p.Asp5327=) rs1278975928 0.00001
NM_001267550.2(TTN):c.17733T>C (p.Asn5911=) rs912253842 0.00001
NM_001267550.2(TTN):c.18150A>G (p.Lys6050=) rs991259759 0.00001
NM_001267550.2(TTN):c.19426+7A>G rs756760290 0.00001
NM_001267550.2(TTN):c.24207A>G (p.Ser8069=) rs370099448 0.00001
NM_001267550.2(TTN):c.24453C>T (p.Leu8151=) rs772386098 0.00001
NM_001267550.2(TTN):c.30414T>C (p.Asn10138=) rs878990074 0.00001
NM_001267550.2(TTN):c.30927G>A (p.Glu10309=) rs1015963344 0.00001
NM_001267550.2(TTN):c.34787-16C>T rs191530616 0.00001
NM_001267550.2(TTN):c.3876A>G (p.Gly1292=) rs755784209 0.00001
NM_001267550.2(TTN):c.40408+20A>G rs750616546 0.00001
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val) rs545806408 0.00001
NM_001267550.2(TTN):c.4314C>T (p.Ser1438=) rs764817754 0.00001
NM_001267550.2(TTN):c.49287C>T (p.Asn16429=) rs763809932 0.00001
NM_001267550.2(TTN):c.50076C>T (p.Asp16692=) rs397517598 0.00001
NM_001267550.2(TTN):c.60027C>T (p.Ile20009=) rs368279024 0.00001
NM_001267550.2(TTN):c.60195C>A (p.Ile20065=) rs990501984 0.00001
NM_001267550.2(TTN):c.65565C>T (p.Leu21855=) rs367880653 0.00001
NM_001267550.2(TTN):c.65799C>T (p.Asp21933=) rs370123011 0.00001
NM_001267550.2(TTN):c.73149G>A (p.Ser24383=) rs564938876 0.00001
NM_001267550.2(TTN):c.81168T>C (p.Ser27056=) rs767101518 0.00001
NM_001267550.2(TTN):c.82641A>G (p.Glu27547=) rs372153745 0.00001
NM_001267550.2(TTN):c.83766T>C (p.Thr27922=) rs757873540 0.00001
NM_001267550.2(TTN):c.85768C>A (p.Arg28590=) rs748689777 0.00001
NM_001267550.2(TTN):c.93868C>T (p.Leu31290=) rs557737090 0.00001
NM_001267550.2(TTN):c.94620C>A (p.Gly31540=) rs746325775 0.00001
NM_001267550.2(TTN):c.94740T>C (p.Tyr31580=) rs1359929309 0.00001
NM_001267550.2(TTN):c.9486G>A (p.Gln3162=) rs768927616 0.00001
NM_001267550.2(TTN):c.97194C>T (p.Asp32398=) rs768594716 0.00001
NM_001267550.2(TTN):c.97419T>C (p.Arg32473=) rs1317447790 0.00001
NM_001267550.2(TTN):c.98238T>C (p.Ser32746=) rs879159807 0.00001
NM_001458.5(FLNC):c.2307G>A (p.Val769=) rs906089015 0.00001
NM_001458.5(FLNC):c.5043G>A (p.Thr1681=) rs200405579 0.00001
NM_001458.5(FLNC):c.5842+12G>A rs745604311 0.00001
NM_001458.5(FLNC):c.7449C>T (p.Asn2483=) rs761006044 0.00001
NM_007078.3(LDB3):c.328G>A (p.Ala110Thr) rs768737496 0.00001
NM_033337.3(CAV3):c.60G>A (p.Lys20=) rs972788554 0.00001
NM_001267550.2(TTN):c.100171+16_100171+17insA rs2154137874
NM_001267550.2(TTN):c.107681-18dup rs148707308
NM_001267550.2(TTN):c.11255-17_11255-16del rs72647895
NM_001267550.2(TTN):c.12564C>T (p.Ala4188=) rs547338168
NM_001267550.2(TTN):c.177C>T (p.Ser59=) rs191057824
NM_001267550.2(TTN):c.18114T>C (p.Thr6038=) rs1221916366
NM_001267550.2(TTN):c.21246C>T (p.Thr7082=) rs1553913320
NM_001267550.2(TTN):c.2226C>T (p.Ser742=) rs151025677
NM_001267550.2(TTN):c.25104C>T (p.Asp8368=) rs369089044
NM_001267550.2(TTN):c.27429T>C (p.Val9143=) rs753291492
NM_001267550.2(TTN):c.30683-19del rs752002029
NM_001267550.2(TTN):c.30683-4_30683-3del rs368277751
NM_001267550.2(TTN):c.33418+11del rs779637808
NM_001267550.2(TTN):c.34708+8C>A rs762808097
NM_001267550.2(TTN):c.34787-19del rs749050618
NM_001267550.2(TTN):c.35025G>A (p.Val11675=) rs1047010138
NM_001267550.2(TTN):c.36159G>C (p.Thr12053=) rs773862719
NM_001267550.2(TTN):c.36949G>A (p.Ala12317Thr) rs1405466072
NM_001267550.2(TTN):c.40057+10A>G rs1576917346
NM_001267550.2(TTN):c.40634-15_40634-11del rs375561641
NM_001267550.2(TTN):c.46170G>A (p.Pro15390=) rs747163190
NM_001267550.2(TTN):c.4814+9G>C rs768137657
NM_001267550.2(TTN):c.51570T>G (p.Gly17190=) rs876657607
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.60576A>C (p.Ser20192=) rs778528252
NM_001267550.2(TTN):c.61098C>T (p.Cys20366=) rs755233818
NM_001267550.2(TTN):c.66054G>A (p.Glu22018=) rs727503579
NM_001267550.2(TTN):c.66528T>G (p.Ser22176=) rs1553626322
NM_001267550.2(TTN):c.66624A>G (p.Leu22208=) rs2047769242
NM_001267550.2(TTN):c.68235T>C (p.Asp22745=) rs757244505
NM_001267550.2(TTN):c.70377T>C (p.Pro23459=) rs768458635
NM_001267550.2(TTN):c.72645T>G (p.Leu24215=) rs1218286270
NM_001267550.2(TTN):c.91271-20C>A rs1461887959
NM_001267550.2(TTN):c.93663C>T (p.Thr31221=) rs1489398531
NM_001267550.2(TTN):c.93939C>T (p.Thr31313=) rs771653811
NM_001289808.2(CRYAB):c.324+13dup rs782303631
NM_001368067.1(LDB3):c.849C>T (p.Ser283=) rs1846156972
NM_001458.5(FLNC):c.2008-6G>A rs577813339
NM_001458.5(FLNC):c.6135G>C (p.Arg2045=) rs1585168080
NM_001458.5(FLNC):c.8118_8121delinsTATC (p.Leu2706_Ile2707=) rs2128940705
NM_007078.3(LDB3):c.672T>C (p.Gly224=) rs2132373056
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6]) rs397517815

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