ClinVar Miner

List of variants in gene ACTN2 reported as benign for not specified

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.351T>C (p.Ile117=) rs1341864 0.99334
NM_001103.4(ACTN2):c.378C>T (p.Asn126=) rs1341863 0.93032
NM_001103.4(ACTN2):c.877-8C>G rs2288601 0.77958
NM_001103.4(ACTN2):c.877-8= rs2288601 0.22042
NM_001103.4(ACTN2):c.2610G>A (p.Ser870=) rs12063382 0.16345
NM_001103.4(ACTN2):c.783+22G>A rs2288600 0.15846
NM_001103.4(ACTN2):c.378= (p.Asn126=) rs1341863 0.06968
NM_001103.4(ACTN2):c.1296G>A (p.Ala432=) rs35956798 0.04366
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=) rs34975493 0.03463
NM_001103.4(ACTN2):c.-22C>T rs138279482 0.02321
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_001103.4(ACTN2):c.705G>C (p.Val235=) rs2288599 0.00749
NM_001103.4(ACTN2):c.351= (p.Ile117=) rs1341864 0.00666
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_001103.4(ACTN2):c.870G>A (p.Ala290=) rs116464082 0.00506
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_001103.4(ACTN2):c.1932C>A (p.Ala644=) rs144680712 0.00314
NM_001103.4(ACTN2):c.2368-17T>C rs78961574 0.00255
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412 0.00230
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00215
NM_001103.4(ACTN2):c.1515+15C>T rs368107695 0.00147
NM_001103.4(ACTN2):c.441G>A (p.Ser147=) rs150182164 0.00107
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_001103.4(ACTN2):c.126+14C>T rs373269478 0.00098
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001103.4(ACTN2):c.1657-16T>C rs148194175 0.00095
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803 0.00094
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_001103.4(ACTN2):c.877-6G>A rs397516585 0.00068
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001103.4(ACTN2):c.546T>C (p.Asp182=) rs34263845 0.00066
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001103.4(ACTN2):c.927C>T (p.Pro309=) rs145411160 0.00051
NM_001103.4(ACTN2):c.2367+8A>G rs112714025 0.00048
NM_001103.4(ACTN2):c.1975-12C>T rs371352710 0.00036
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_001103.4(ACTN2):c.1406+8C>T rs397516567 0.00026
NM_001103.4(ACTN2):c.615+15C>T rs369293885 0.00014
NM_001103.4(ACTN2):c.1974+10C>T rs368354944 0.00011
NM_001103.4(ACTN2):c.2148G>A (p.Thr716=) rs191631773 0.00010
NM_001103.4(ACTN2):c.165C>T (p.Ala55=) rs193922634 0.00009
NM_001103.4(ACTN2):c.2541G>A (p.Ala847=) rs374278766 0.00008
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=) rs137890030 0.00006
NM_001103.4(ACTN2):c.354C>T (p.Gly118=) rs539250948 0.00006
NM_001103.4(ACTN2):c.744C>T (p.Tyr248=) rs749565466 0.00006
NM_001103.4(ACTN2):c.1485G>A (p.Thr495=) rs201179281 0.00005
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=) rs141884271 0.00004
NM_001103.4(ACTN2):c.2412C>T (p.Asn804=) rs201700660 0.00004
NM_001103.4(ACTN2):c.18C>T (p.Pro6=) rs368367224 0.00003
NM_001103.4(ACTN2):c.2526+8T>C rs760086675 0.00003
NM_001103.4(ACTN2):c.2560C>T (p.Leu854=) rs370992948 0.00003
NM_001103.4(ACTN2):c.1108-5C>T rs369956166 0.00002
NM_001103.4(ACTN2):c.1425C>T (p.Asp475=) rs148223734 0.00002
NM_001103.4(ACTN2):c.762C>T (p.His254=) rs397516584 0.00002
NM_001103.4(ACTN2):c.1256-13A>T rs778085872 0.00001
NM_001103.4(ACTN2):c.1332C>T (p.His444=) rs373709019 0.00001
NM_001103.4(ACTN2):c.1693C>T (p.Leu565=) rs546293678 0.00001
NM_001103.4(ACTN2):c.375C>T (p.Gly125=) rs781385336 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001103.4(ACTN2):c.1512A>G (p.Leu504=) rs2102934725
NM_001103.4(ACTN2):c.1704G>A (p.Ala568=) rs369560444
NM_001103.4(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.4(ACTN2):c.1975-6C>G rs201255023
NM_001103.4(ACTN2):c.784-518del rs11355106
NM_001103.4(ACTN2):c.918C>T (p.Asn306=) rs148646265

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