ClinVar Miner

List of variants in gene ACTN2 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 48
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HGVS dbSNP
NM_001103.3(ACTN2):c.*1040G>A rs190412319
NM_001103.3(ACTN2):c.*1097G>A rs886046209
NM_001103.3(ACTN2):c.*1109C>T rs759273956
NM_001103.3(ACTN2):c.*1253G>T rs886046210
NM_001103.3(ACTN2):c.*1273C>T rs886046211
NM_001103.3(ACTN2):c.*1274_*1275delCT rs771809993
NM_001103.3(ACTN2):c.*1288T>G rs886046212
NM_001103.3(ACTN2):c.*1301T>C rs886046213
NM_001103.3(ACTN2):c.*157C>T rs184479165
NM_001103.3(ACTN2):c.*1651G>T rs764609669
NM_001103.3(ACTN2):c.*286T>C rs190536248
NM_001103.3(ACTN2):c.*396G>A rs181994486
NM_001103.3(ACTN2):c.*43A>C rs758068136
NM_001103.3(ACTN2):c.*886T>G rs886046208
NM_001103.3(ACTN2):c.-104C>A rs886046202
NM_001103.3(ACTN2):c.-159C>T rs886046201
NM_001103.3(ACTN2):c.-3G>T rs201920417
NM_001103.3(ACTN2):c.-7G>A rs370646112
NM_001103.3(ACTN2):c.-98_-92CGCCGCC[4] rs552471202
NM_001103.3(ACTN2):c.1031A>C (p.Asn344Thr) rs886046206
NM_001103.3(ACTN2):c.1106C>T (p.Ser369Leu) rs747400815
NM_001103.3(ACTN2):c.122G>A (p.Arg41Lys) rs781746567
NM_001103.3(ACTN2):c.126+15G>C rs745563404
NM_001103.3(ACTN2):c.1323G>A (p.Leu441=) rs886039127
NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) rs114008185
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.3(ACTN2):c.1406+8C>T rs397516567
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) rs200529923
NM_001103.3(ACTN2):c.166G>A (p.Gly56Ser) rs758034866
NM_001103.3(ACTN2):c.1799G>A (p.Ser600Asn) rs794728968
NM_001103.3(ACTN2):c.1823G>A (p.Arg608Gln) rs529944004
NM_001103.3(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803
NM_001103.3(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.1918C>T (p.Arg640Cys) rs769453411
NM_001103.3(ACTN2):c.2201C>T (p.Thr734Ile) rs886046207
NM_001103.3(ACTN2):c.2241G>A (p.Ala747=) rs767011628
NM_001103.3(ACTN2):c.2568G>A (p.Pro856=) rs149554430
NM_001103.3(ACTN2):c.2601C>T (p.Pro867=) rs147245615
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001103.3(ACTN2):c.31A>C (p.Asn11His) rs886046205
NM_001103.3(ACTN2):c.546T>C (p.Asp182=) rs34263845
NM_001103.3(ACTN2):c.646A>G (p.Met216Val) rs749019847
NM_001103.3(ACTN2):c.777G>A (p.Ala259=) rs764583678
NM_001103.3(ACTN2):c.918C>T (p.Asn306=) rs148646265
NM_001103.3(ACTN2):c.947T>C (p.Met316Thr) rs370757762
NM_001103.3(ACTN2):c.979C>T (p.Arg327Cys) rs769485633
NM_001103.3(ACTN2):c.983G>A (p.Arg328Gln) rs774046373

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