ClinVar Miner

List of variants in gene ACTN2 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=) rs34975493 0.03463
NM_001103.4(ACTN2):c.705G>C (p.Val235=) rs2288599 0.00749
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.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.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.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001103.4(ACTN2):c.927C>T (p.Pro309=) rs145411160 0.00051
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.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_001103.4(ACTN2):c.1406+8C>T rs397516567 0.00026
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837 0.00026
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu) rs747400815 0.00021
NM_001103.4(ACTN2):c.615+15C>T rs369293885 0.00014
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005 0.00012
NM_001103.4(ACTN2):c.1974+10C>T rs368354944 0.00011
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886 0.00009
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.331G>A (p.Gly111Arg) rs148628141 0.00007
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.1862G>A (p.Arg621His) rs368040932 0.00004
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=) rs141884271 0.00004
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) rs201335965 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001103.4(ACTN2):c.777G>A (p.Ala259=) rs764583678 0.00004
NM_001103.4(ACTN2):c.18C>T (p.Pro6=) rs368367224 0.00003
NM_001103.4(ACTN2):c.2162G>A (p.Arg721His) rs546431200 0.00003
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys) rs141563497 0.00003
NM_001103.4(ACTN2):c.401T>C (p.Ile134Thr) rs770368711 0.00003
NM_001103.4(ACTN2):c.645C>T (p.Ala215=) rs781683654 0.00003
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val) rs368409665 0.00002
NM_001103.4(ACTN2):c.1425C>T (p.Asp475=) rs148223734 0.00002
NM_001103.4(ACTN2):c.2643C>T (p.Tyr881=) rs727505177 0.00002
NM_001103.4(ACTN2):c.536+6C>G rs771398006 0.00002
NM_001103.4(ACTN2):c.892C>T (p.Arg298Cys) rs1060503683 0.00002
NM_001103.4(ACTN2):c.1614T>C (p.Asp538=) rs368615266 0.00001
NM_001103.4(ACTN2):c.1905C>T (p.Asn635=) rs772586220 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001103.4(ACTN2):c.1098G>C (p.Lys366Asn) rs1243320734
NM_001103.4(ACTN2):c.126+13C>T rs1440134547
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.1564G>A (p.Ala522Thr) rs1455367143
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.2113G>A (p.Ala705Thr) rs1659517244
NM_001103.4(ACTN2):c.2233A>T (p.Arg745Ter) rs2102947099
NM_001103.4(ACTN2):c.2331T>G (p.Asp777Glu)
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001103.4(ACTN2):c.2577C>T (p.Ala859=) rs193922636
NM_001103.4(ACTN2):c.399G>A (p.Met133Ile)
NM_001103.4(ACTN2):c.537-13G>A
NM_001103.4(ACTN2):c.537-9G>C
NM_001103.4(ACTN2):c.698-4T>A rs1402138776
NM_001103.4(ACTN2):c.918C>T (p.Asn306=) rs148646265

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