ClinVar Miner

List of variants in gene ACTN2 studied for not provided

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Gene type:
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Total variants: 175
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HGVS dbSNP
NC_000001.11:g.236686164C>T
NC_000001.11:g.236735384del
NC_000001.11:g.236736600del
NM_001103.3(ACTN2):c.1031A>G (p.Asn344Ser) rs886046206
NM_001103.3(ACTN2):c.1040C>T (p.Thr347Met) rs727504590
NM_001103.3(ACTN2):c.1046A>T (p.Gln349Leu) rs376335356
NM_001103.3(ACTN2):c.1057C>T (p.Arg353Trp) rs1150181
NM_001103.3(ACTN2):c.1107+123T>C
NM_001103.3(ACTN2):c.1107+33A>C
NM_001103.3(ACTN2):c.1108-247T>C
NM_001103.3(ACTN2):c.1180C>T (p.Arg394Trp) rs559395092
NM_001103.3(ACTN2):c.1216T>G (p.Phe406Val)
NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) rs139515659
NM_001103.3(ACTN2):c.1255+321G>A
NM_001103.3(ACTN2):c.1255+95C>T
NM_001103.3(ACTN2):c.1256-79G>A
NM_001103.3(ACTN2):c.126+157A>G
NM_001103.3(ACTN2):c.126+331G>C
NM_001103.3(ACTN2):c.1287C>G (p.Tyr429Ter) rs764881077
NM_001103.3(ACTN2):c.1287C>T (p.Tyr429=) rs764881077
NM_001103.3(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886
NM_001103.3(ACTN2):c.1295C>T (p.Ala432Val) rs767291633
NM_001103.3(ACTN2):c.1307A>C (p.Glu436Ala) rs199955427
NM_001103.3(ACTN2):c.1312C>T (p.Arg438Trp) rs563171274
NM_001103.3(ACTN2):c.1330C>G (p.His444Asp) rs1064796600
NM_001103.3(ACTN2):c.1348G>T (p.Asp450Tyr) rs774252565
NM_001103.3(ACTN2):c.1358C>T (p.Ala453Val) rs566860712
NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) rs114008185
NM_001103.3(ACTN2):c.1407-104T>C
NM_001103.3(ACTN2):c.1407-128A>G
NM_001103.3(ACTN2):c.1407-335A>G
NM_001103.3(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.143G>C (p.Cys48Ser) rs794728959
NM_001103.3(ACTN2):c.1444C>T (p.Arg482Trp) rs199604590
NM_001103.3(ACTN2):c.1492C>T (p.Gln498Ter) rs1553303445
NM_001103.3(ACTN2):c.1515+146G>T
NM_001103.3(ACTN2):c.1515+221T>A
NM_001103.3(ACTN2):c.1515+268C>T
NM_001103.3(ACTN2):c.1515+47C>T
NM_001103.3(ACTN2):c.1516-138G>A
NM_001103.3(ACTN2):c.1516-205G>T
NM_001103.3(ACTN2):c.1532T>C (p.Leu511Pro) rs786205346
NM_001103.3(ACTN2):c.1538C>A (p.Thr513Asn) rs749178520
NM_001103.3(ACTN2):c.1552C>T (p.His518Tyr) rs573836993
NM_001103.3(ACTN2):c.1586A>G (p.Asn529Ser) rs200143657
NM_001103.3(ACTN2):c.1594A>T (p.Met532Leu) rs200969588
NM_001103.3(ACTN2):c.1656+159G>A
NM_001103.3(ACTN2):c.1656+258C>T
NM_001103.3(ACTN2):c.1656+275A>G
NM_001103.3(ACTN2):c.1656+33A>G
NM_001103.3(ACTN2):c.1656+92G>T
NM_001103.3(ACTN2):c.1657-160G>C
NM_001103.3(ACTN2):c.1657-194C>T
NM_001103.3(ACTN2):c.1657-204G>A
NM_001103.3(ACTN2):c.1658G>C (p.Ser553Thr) rs778767257
NM_001103.3(ACTN2):c.1714C>T (p.Arg572Trp) rs142142718
NM_001103.3(ACTN2):c.1745T>C (p.Val582Ala)
NM_001103.3(ACTN2):c.1771A>G (p.Ile591Val) rs377650301
NM_001103.3(ACTN2):c.1793del (p.Pro598fs) rs1553303871
NM_001103.3(ACTN2):c.1799G>A (p.Ser600Asn) rs794728968
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001103.3(ACTN2):c.1823G>A (p.Arg608Gln) rs529944004
NM_001103.3(ACTN2):c.1839+255G>A
NM_001103.3(ACTN2):c.1839+256T>C
NM_001103.3(ACTN2):c.1919G>A (p.Arg640His) rs772909106
NM_001103.3(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600
NM_001103.3(ACTN2):c.193G>A (p.Asp65Asn)
NM_001103.3(ACTN2):c.1946T>C (p.Ile649Thr) rs150825710
NM_001103.3(ACTN2):c.1948G>A (p.Gly650Arg) rs1173244523
NM_001103.3(ACTN2):c.1974+136C>T
NM_001103.3(ACTN2):c.1975-314T>C
NM_001103.3(ACTN2):c.1983C>T (p.Ala661=) rs372137571
NM_001103.3(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739
NM_001103.3(ACTN2):c.1985G>A (p.Arg662Gln) rs764931229
NM_001103.3(ACTN2):c.19G>A (p.Gly7Ser) rs1057523721
NM_001103.3(ACTN2):c.2003C>G (p.Thr668Arg) rs397516572
NM_001103.3(ACTN2):c.2054T>C (p.Ile685Thr) rs1057523250
NM_001103.3(ACTN2):c.2056A>C (p.Ile686Leu) rs534607483
NM_001103.3(ACTN2):c.2063A>G (p.Tyr688Cys) rs145248415
NM_001103.3(ACTN2):c.2082G>C (p.Lys694Asn) rs748034053
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001103.3(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837
NM_001103.3(ACTN2):c.2161C>T (p.Arg721Cys) rs149433837
NM_001103.3(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290
NM_001103.3(ACTN2):c.2210A>C (p.Glu737Ala) rs982200490
NM_001103.3(ACTN2):c.2231C>T (p.Thr744Met) rs765747662
NM_001103.3(ACTN2):c.2289C>G (p.Asn763Lys) rs745579917
NM_001103.3(ACTN2):c.2301+28A>G
NM_001103.3(ACTN2):c.2301+66G>T
NM_001103.3(ACTN2):c.2336G>A (p.Arg779Lys)
NM_001103.3(ACTN2):c.2367+108C>T
NM_001103.3(ACTN2):c.2367+210A>G
NM_001103.3(ACTN2):c.2367+301C>A
NM_001103.3(ACTN2):c.2368-169C>A
NM_001103.3(ACTN2):c.2377G>A (p.Glu793Lys) rs145450474
NM_001103.3(ACTN2):c.2386C>T (p.Arg796Cys) rs397516574
NM_001103.3(ACTN2):c.241+131C>T
NM_001103.3(ACTN2):c.241+135T>C
NM_001103.3(ACTN2):c.241+302G>T
NM_001103.3(ACTN2):c.2419G>C (p.Gly807Arg) rs200282066
NM_001103.3(ACTN2):c.242-84G>A
NM_001103.3(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001103.3(ACTN2):c.2437T>A (p.Ser813Thr) rs1553305106
NM_001103.3(ACTN2):c.2446G>A (p.Asp816Asn) rs1057522840
NM_001103.3(ACTN2):c.244G>A (p.Glu82Lys) rs139424431
NM_001103.3(ACTN2):c.2480C>G (p.Thr827Ser) rs1057524767
NM_001103.3(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335
NM_001103.3(ACTN2):c.250C>T (p.Leu84=) rs1558232391
NM_001103.3(ACTN2):c.2520del (p.Asp841fs) rs794728969
NM_001103.3(ACTN2):c.2526+33A>G
NM_001103.3(ACTN2):c.2527-1G>A rs794728966
NM_001103.3(ACTN2):c.2539G>A (p.Ala847Thr) rs1064796605
NM_001103.3(ACTN2):c.2552G>A (p.Arg851His) rs201335965
NM_001103.3(ACTN2):c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT (p.Pro856fs) rs1553305275
NM_001103.3(ACTN2):c.2567C>T (p.Pro856Leu) rs375588211
NM_001103.3(ACTN2):c.2578C>T (p.Gln860Ter) rs763078071
NM_001103.3(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260
NM_001103.3(ACTN2):c.2612G>T (p.Gly871Val) rs370341149
NM_001103.3(ACTN2):c.2630dup (p.Ala878fs) rs1553305291
NM_001103.3(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050
NM_001103.3(ACTN2):c.2678A>G (p.Asp893Gly) rs199920384
NM_001103.3(ACTN2):c.278G>A (p.Arg93Gln) rs777124854
NM_001103.3(ACTN2):c.352G>T (p.Gly118Cys) rs1131691370
NM_001103.3(ACTN2):c.353G>A (p.Gly118Asp) rs794728960
NM_001103.3(ACTN2):c.361+96C>T
NM_001103.3(ACTN2):c.362-165T>C
NM_001103.3(ACTN2):c.362-244A>G
NM_001103.3(ACTN2):c.401T>C (p.Ile134Thr) rs770368711
NM_001103.3(ACTN2):c.418C>T (p.Arg140Cys) rs1131691439
NM_001103.3(ACTN2):c.427A>G (p.Ile143Val) rs786205453
NM_001103.3(ACTN2):c.441G>A (p.Ser147=) rs150182164
NM_001103.3(ACTN2):c.448+195G>T
NM_001103.3(ACTN2):c.448+73G>A
NM_001103.3(ACTN2):c.449-122G>C
NM_001103.3(ACTN2):c.496G>C (p.Ala166Pro) rs794728961
NM_001103.3(ACTN2):c.506G>C (p.Arg169Thr) rs727505146
NM_001103.3(ACTN2):c.509A>G (p.Asn170Ser) rs1057523249
NM_001103.3(ACTN2):c.517A>G (p.Ile173Val) rs749860792
NM_001103.3(ACTN2):c.536+223G>A
NM_001103.3(ACTN2):c.536+270G>A
NM_001103.3(ACTN2):c.537-197A>G
NM_001103.3(ACTN2):c.556C>T (p.Leu186Phe) rs371930065
NM_001103.3(ACTN2):c.575G>A (p.Arg192Gln) rs200316891
NM_001103.3(ACTN2):c.620A>G (p.Asp207Gly) rs794728962
NM_001103.3(ACTN2):c.65A>T (p.Gln22Leu) rs1057518609
NM_001103.3(ACTN2):c.674T>G (p.Ile225Ser) rs1553301462
NM_001103.3(ACTN2):c.690T>A (p.Asp230Glu) rs139489232
NM_001103.3(ACTN2):c.697+33G>A
NM_001103.3(ACTN2):c.698-1009G>A
NM_001103.3(ACTN2):c.698-1068T>C
NM_001103.3(ACTN2):c.698-1179G>A
NM_001103.3(ACTN2):c.698-1302A>G
NM_001103.3(ACTN2):c.698-1428C>T
NM_001103.3(ACTN2):c.698-900T>C
NM_001103.3(ACTN2):c.700A>C (p.Ile234Leu) rs794728963
NM_001103.3(ACTN2):c.703G>A (p.Val235Met) rs754929573
NM_001103.3(ACTN2):c.705G>C (p.Val235=) rs2288599
NM_001103.3(ACTN2):c.745G>A (p.Val249Ile) rs771260546
NM_001103.3(ACTN2):c.770C>T (p.Ala257Val) rs759652494
NM_001103.3(ACTN2):c.775G>A (p.Ala259Thr) rs574401232
NM_001103.3(ACTN2):c.783+22G>A rs2288600
NM_001103.3(ACTN2):c.784-404G>A
NM_001103.3(ACTN2):c.784-45A>G
NM_001103.3(ACTN2):c.794C>T (p.Ala265Val) rs794728965
NM_001103.3(ACTN2):c.877-238C>T
NM_001103.3(ACTN2):c.877-42C>T
NM_001103.3(ACTN2):c.877-99T>C
NM_001103.3(ACTN2):c.893G>A (p.Arg298His) rs142482143
NM_001103.3(ACTN2):c.895C>T (p.Arg299Cys) rs779109533
NM_001103.3(ACTN2):c.899C>T (p.Thr300Met) rs144025957
NM_001103.3(ACTN2):c.902T>A (p.Ile301Asn)
NM_001103.3(ACTN2):c.926C>T (p.Pro309Leu) rs146568303
NM_001103.3(ACTN2):c.947T>C (p.Met316Thr) rs370757762
NM_001103.3(ACTN2):c.970C>T (p.Arg324Trp) rs747674727

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