ClinVar Miner

List of variants reported as likely pathogenic for childhood-onset nemaline myopathy by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 263
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001164508.2(NEB):c.18472-1G>C rs1203257517 0.00003
NM_001164508.2(NEB):c.19836+1G>A rs1446930968 0.00003
NM_001164508.2(NEB):c.22800+1G>A rs1302373559 0.00003
NM_001100.4(ACTA1):c.460G>T (p.Val154Leu) rs768144106 0.00001
NM_001100.4(ACTA1):c.990+1G>T rs372686280 0.00001
NM_001164508.2(NEB):c.1153-2A>G rs1553609515 0.00001
NM_001164508.2(NEB):c.1258-2A>G rs1553608621 0.00001
NM_001164508.2(NEB):c.1365+2T>C rs770797137 0.00001
NM_001164508.2(NEB):c.1570-2del rs2099590816 0.00001
NM_001164508.2(NEB):c.20577+2T>C rs1185654671 0.00001
NM_001164508.2(NEB):c.20787+2T>C rs1337287633 0.00001
NM_001164508.2(NEB):c.21313-2A>T rs1212081578 0.00001
NM_001164508.2(NEB):c.21736-13_21743del rs767772838 0.00001
NM_001164508.2(NEB):c.22375-1G>A rs949331605 0.00001
NM_001164508.2(NEB):c.22696-1G>A rs745511810 0.00001
NM_001164508.2(NEB):c.22905+2T>C rs1553623367 0.00001
NM_001164508.2(NEB):c.23016+1G>A rs111833078 0.00001
NM_001164508.2(NEB):c.23127+2T>C rs112610938 0.00001
NM_001164508.2(NEB):c.23451+1G>T rs1011425121 0.00001
NM_001164508.2(NEB):c.24022-1G>C rs1553561697 0.00001
NM_001164508.2(NEB):c.24300+1G>A rs1366853918 0.00001
NM_001164508.2(NEB):c.24393+1G>A rs775631800 0.00001
NM_001164508.2(NEB):c.295-2A>G rs1428300892 0.00001
NM_001164508.2(NEB):c.37-1G>A rs1428597732 0.00001
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys) rs369224273 0.00001
NM_006063.3(KLHL41):c.667C>T (p.Arg223Cys) rs754460870 0.00001
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NC_000002.11:g.(?_152348187)_(152425896_?)dup
NC_000002.11:g.(?_152506680)_(152507409_?)del
NC_000002.11:g.(?_152541945)_(152544191_?)del
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser) rs121909531
NM_001100.4(ACTA1):c.1001C>G (p.Pro334Arg) rs1553255312
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu) rs1553255312
NM_001100.4(ACTA1):c.1003C>G (p.Pro335Ala) rs1558081384
NM_001100.4(ACTA1):c.1004C>T (p.Pro335Leu) rs1057518493
NM_001100.4(ACTA1):c.1043T>A (p.Leu348Gln) rs2102735038
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys) rs587777354
NM_001100.4(ACTA1):c.1075A>G (p.Ile359Val)
NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu) rs1553255293
NM_001100.4(ACTA1):c.1123A>G (p.Lys375Glu) rs1571892209
NM_001100.4(ACTA1):c.130-1G>A
NM_001100.4(ACTA1):c.142G>C (p.Gly48Arg) rs794727488
NM_001100.4(ACTA1):c.172G>A (p.Asp58Asn) rs1085308014
NM_001100.4(ACTA1):c.197T>G (p.Ile66Ser) rs1553255502
NM_001100.4(ACTA1):c.286C>G (p.Leu96Val) rs2102736312
NM_001100.4(ACTA1):c.304G>A (p.Glu102Lys) rs1057520216
NM_001100.4(ACTA1):c.346G>A (p.Ala116Thr) rs1659975786
NM_001100.4(ACTA1):c.402G>A (p.Met134Ile) rs1553255486
NM_001100.4(ACTA1):c.430C>T (p.Leu144Phe) rs886039557
NM_001100.4(ACTA1):c.553C>A (p.Arg185Ser) rs1064794287
NM_001100.4(ACTA1):c.556G>A (p.Asp186Asn) rs2102735904
NM_001100.4(ACTA1):c.592C>T (p.Arg198Cys) rs1659962016
NM_001100.4(ACTA1):c.617-5C>A rs199804338
NM_001100.4(ACTA1):c.685A>T (p.Met229Leu) rs794727714
NM_001100.4(ACTA1):c.758G>A (p.Gly253Asp)
NM_001100.4(ACTA1):c.766C>T (p.Arg256Cys) rs1558081624
NM_001100.4(ACTA1):c.812T>G (p.Met271Arg) rs1553255360
NM_001100.4(ACTA1):c.844A>C (p.Asn282His)
NM_001100.4(ACTA1):c.980T>A (p.Met327Lys) rs2102735175
NM_001164508.2(NEB):c.10143+2T>G
NM_001164508.2(NEB):c.10144-2A>G rs1435980710
NM_001164508.2(NEB):c.10675C>G (p.Arg3559Gly) rs751938843
NM_001164508.2(NEB):c.11077-1G>A rs1458096844
NM_001164508.2(NEB):c.1153-2A>T rs1553609515
NM_001164508.2(NEB):c.11805+1G>A
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.12019-2A>G
NM_001164508.2(NEB):c.12330+1G>A rs1350840483
NM_001164508.2(NEB):c.12330+5G>A rs763163879
NM_001164508.2(NEB):c.12331-1G>A rs2097775442
NM_001164508.2(NEB):c.1257+2T>G rs2149365500
NM_001164508.2(NEB):c.12640-1G>A rs2097713999
NM_001164508.2(NEB):c.12747+2T>C
NM_001164508.2(NEB):c.12748-1G>A
NM_001164508.2(NEB):c.12748-1_12761del rs2153940927
NM_001164508.2(NEB):c.13060-2A>G rs2097571378
NM_001164508.2(NEB):c.13368+1G>A
NM_001164508.2(NEB):c.13369-2A>C
NM_001164508.2(NEB):c.13369-2A>G
NM_001164508.2(NEB):c.13369-2_13374del
NM_001164508.2(NEB):c.13476+1G>A rs1578868550
NM_001164508.2(NEB):c.13477-2A>G rs2153903681
NM_001164508.2(NEB):c.13477-2A>T
NM_001164508.2(NEB):c.1365+1G>T
NM_001164508.2(NEB):c.1569+1G>A rs1553605553
NM_001164508.2(NEB):c.1569+1G>C
NM_001164508.2(NEB):c.1570-1G>C rs1390328608
NM_001164508.2(NEB):c.1570-2A>G rs1553603958
NM_001164508.2(NEB):c.1675-2A>G
NM_001164508.2(NEB):c.17431-2A>T
NM_001164508.2(NEB):c.17535+1G>T rs2153749469
NM_001164508.2(NEB):c.17736+1G>A
NM_001164508.2(NEB):c.1782+1del rs1390897355
NM_001164508.2(NEB):c.17953_18472-56del
NM_001164508.2(NEB):c.18146_18156+7del
NM_001164508.2(NEB):c.18157-2A>G rs925947627
NM_001164508.2(NEB):c.18261+1G>A
NM_001164508.2(NEB):c.18261+1G>T rs112544116
NM_001164508.2(NEB):c.18366+2T>C rs2153729614
NM_001164508.2(NEB):c.18367-1_18367delinsAA rs1553770178
NM_001164508.2(NEB):c.18367-1_18370del rs1553770146
NM_001164508.2(NEB):c.18471+1G>C rs1553769576
NM_001164508.2(NEB):c.18580-8_18608del
NM_001164508.2(NEB):c.18694-1G>A rs2153712182
NM_001164508.2(NEB):c.1897-1G>A rs1553593177
NM_001164508.2(NEB):c.18996+2T>C rs1577636079
NM_001164508.2(NEB):c.19101+1G>A
NM_001164508.2(NEB):c.19626+1G>A rs756352186
NM_001164508.2(NEB):c.19836+1del
NM_001164508.2(NEB):c.19945-2A>C rs113473971
NM_001164508.2(NEB):c.20049+2T>A
NM_001164508.2(NEB):c.20157+1G>A
NM_001164508.2(NEB):c.20262+2T>C
NM_001164508.2(NEB):c.20262+2T>G rs2153617573
NM_001164508.2(NEB):c.20578-2A>G
NM_001164508.2(NEB):c.20682+1G>A rs1576819152
NM_001164508.2(NEB):c.21102+2_21102+3del
NM_001164508.2(NEB):c.21103-1G>C
NM_001164508.2(NEB):c.21313-1G>C rs2153515796
NM_001164508.2(NEB):c.21418-1G>A rs2153501801
NM_001164508.2(NEB):c.21523-1G>T
NM_001164508.2(NEB):c.21735+1G>C rs2153475495
NM_001164508.2(NEB):c.21736-1G>T
NM_001164508.2(NEB):c.21736-2A>G rs1389892619
NM_001164508.2(NEB):c.21945+1G>A
NM_001164508.2(NEB):c.21945+1G>C rs2153458564
NM_001164508.2(NEB):c.2211+2T>A rs2149150540
NM_001164508.2(NEB):c.22161+1G>A rs112933443
NM_001164508.2(NEB):c.22272+1G>A
NM_001164508.2(NEB):c.22272+2_22272+3del rs2153447342
NM_001164508.2(NEB):c.22375-1G>C
NM_001164508.2(NEB):c.22375-2A>G rs2153437998
NM_001164508.2(NEB):c.22480-1G>C
NM_001164508.2(NEB):c.22696-2A>C
NM_001164508.2(NEB):c.22800+2T>G rs1553627466
NM_001164508.2(NEB):c.23017-3_23017del
NM_001164508.2(NEB):c.2310+2_2310+3delinsAC
NM_001164508.2(NEB):c.23127+1G>A
NM_001164508.2(NEB):c.23127+2T>A
NM_001164508.2(NEB):c.23128-1G>T
NM_001164508.2(NEB):c.23242-2A>G
NM_001164508.2(NEB):c.23346+1G>A
NM_001164508.2(NEB):c.23346+2T>G
NM_001164508.2(NEB):c.23347-2A>G
NM_001164508.2(NEB):c.23451+1G>A
NM_001164508.2(NEB):c.23451+1G>C rs1011425121
NM_001164508.2(NEB):c.23452-1G>C
NM_001164508.2(NEB):c.23556+1G>T rs2153195911
NM_001164508.2(NEB):c.23556+2T>A
NM_001164508.2(NEB):c.23650-1G>A rs2153172016
NM_001164508.2(NEB):c.23650-2A>T
NM_001164508.2(NEB):c.23743-1G>C rs797045098
NM_001164508.2(NEB):c.23835+2T>C
NM_001164508.2(NEB):c.23836-1G>A
NM_001164508.2(NEB):c.23836-2A>G rs2153104173
NM_001164508.2(NEB):c.23929-1G>C rs2153074006
NM_001164508.2(NEB):c.23929-2A>C rs1553569122
NM_001164508.2(NEB):c.24022-1G>A rs1553561697
NM_001164508.2(NEB):c.24114+1G>C
NM_001164508.2(NEB):c.24115-1G>A
NM_001164508.2(NEB):c.24115-2A>G rs2152992966
NM_001164508.2(NEB):c.24297_24300+1del
NM_001164508.2(NEB):c.24301-1G>T
NM_001164508.2(NEB):c.24394-1G>A rs1421095081
NM_001164508.2(NEB):c.24394-1G>C
NM_001164508.2(NEB):c.24487-1G>A
NM_001164508.2(NEB):c.24487-2A>G
NM_001164508.2(NEB):c.24487-6_24491del
NM_001164508.2(NEB):c.24579+1G>T rs2058584112
NM_001164508.2(NEB):c.24579+2T>C rs1039759571
NM_001164508.2(NEB):c.24580-1G>C rs1574772311
NM_001164508.2(NEB):c.24672+1G>C
NM_001164508.2(NEB):c.24673-1G>A rs1574741105
NM_001164508.2(NEB):c.24673-1G>C
NM_001164508.2(NEB):c.2472_2638-455del
NM_001164508.2(NEB):c.24765+1G>A rs2058028669
NM_001164508.2(NEB):c.24765+2T>A rs2152850167
NM_001164508.2(NEB):c.25057+1G>A rs1191429915
NM_001164508.2(NEB):c.25057+1G>C rs1191429915
NM_001164508.2(NEB):c.25057+1G>T rs1191429915
NM_001164508.2(NEB):c.25058-2A>C rs866309952
NM_001164508.2(NEB):c.2523+2T>A rs2099513404
NM_001164508.2(NEB):c.25235_25297+90del
NM_001164508.2(NEB):c.2524-2A>G rs2148951277
NM_001164508.2(NEB):c.25297+1G>A rs113525641
NM_001164508.2(NEB):c.25298-2A>C
NM_001164508.2(NEB):c.25298-2A>G
NM_001164508.2(NEB):c.2835+1G>A
NM_001164508.2(NEB):c.2836-2A>G rs1208297049
NM_001164508.2(NEB):c.3042+1G>A rs2099408391
NM_001164508.2(NEB):c.3042+1G>T
NM_001164508.2(NEB):c.3043-1G>A rs113326313
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001164508.2(NEB):c.3252_3255+3del rs1559168230
NM_001164508.2(NEB):c.36+1G>C rs1553711195
NM_001164508.2(NEB):c.37-1G>C rs1428597732
NM_001164508.2(NEB):c.3988-1G>A rs1553517128
NM_001164508.2(NEB):c.3988-2A>G rs924831918
NM_001164508.2(NEB):c.402+1G>T
NM_001164508.2(NEB):c.403-1G>C
NM_001164508.2(NEB):c.403-2A>G
NM_001164508.2(NEB):c.403-6_405del rs1553689774
NM_001164508.2(NEB):c.4300-1G>A
NM_001164508.2(NEB):c.4300-1G>C
NM_001164508.2(NEB):c.4506+1G>A rs112517981
NM_001164508.2(NEB):c.4506+2T>C
NM_001164508.2(NEB):c.4507-1G>A rs2154185810
NM_001164508.2(NEB):c.4507-2A>C rs1575668113
NM_001164508.2(NEB):c.4507-2A>G rs1575668113
NM_001164508.2(NEB):c.4611+1G>A rs1233792020
NM_001164508.2(NEB):c.4719+2T>A
NM_001164508.2(NEB):c.498_507+18del
NM_001164508.2(NEB):c.5031+2T>C rs2154178700
NM_001164508.2(NEB):c.507+2T>C
NM_001164508.2(NEB):c.508-1G>A
NM_001164508.2(NEB):c.5239-1G>A
NM_001164508.2(NEB):c.5451+1G>T
NM_001164508.2(NEB):c.5451+2_5451+11del rs1553487838
NM_001164508.2(NEB):c.5452-1G>A rs2154172894
NM_001164508.2(NEB):c.5763+1G>A rs2154172204
NM_001164508.2(NEB):c.5764-2A>G
NM_001164508.2(NEB):c.6075+2T>G rs2154157623
NM_001164508.2(NEB):c.612+1G>A rs1202331107
NM_001164508.2(NEB):c.613-1G>A rs767693366
NM_001164508.2(NEB):c.613-1G>C rs767693366
NM_001164508.2(NEB):c.613-2A>G rs752893483
NM_001164508.2(NEB):c.6183+1G>A rs557870969
NM_001164508.2(NEB):c.6183+1G>T
NM_001164508.2(NEB):c.6184-1G>A rs2154149413
NM_001164508.2(NEB):c.6915+1G>A
NM_001164508.2(NEB):c.717+1G>A rs1577833924
NM_001164508.2(NEB):c.718-1G>A
NM_001164508.2(NEB):c.7432-1G>A rs2154122716
NM_001164508.2(NEB):c.7536+1G>A
NM_001164508.2(NEB):c.822+1G>A rs2099762097
NM_001164508.2(NEB):c.8265+1G>A rs1131691547
NM_001164508.2(NEB):c.8265+1G>T
NM_001164508.2(NEB):c.8373+1G>A rs2154112865
NM_001164508.2(NEB):c.8374-1G>A rs1180407562
NM_001164508.2(NEB):c.8686-2A>G
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_001164508.2(NEB):c.8890-1G>A
NM_001164508.2(NEB):c.8994+1G>A rs2098817648
NM_001164508.2(NEB):c.8995-1G>C
NM_001164508.2(NEB):c.9102+1G>A rs143644938
NM_001164508.2(NEB):c.9415-1G>A
NM_001164508.2(NEB):c.9723+1G>A rs113803601
NM_001164508.2(NEB):c.9724-1G>A rs1553934586
NM_001164508.2(NEB):c.9831+1G>A rs1553933986
NM_001271208.1(NEB):c.7291G>A rs767302772
NM_006063.3(KLHL41):c.1561_1562+2del
NM_152263.4(TPM3):c.137C>T (p.Ala46Val)
NM_152263.4(TPM3):c.243+1G>A
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly) rs1571418855
NM_152263.4(TPM3):c.272G>A (p.Arg91His)
NM_152263.4(TPM3):c.298C>G (p.Leu100Val) rs121964853
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_152263.4(TPM3):c.44A>T (p.Asp15Val) rs2148295444
NM_152263.4(TPM3):c.642+2T>C

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