ClinVar Miner

List of variants in gene ACTN2 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00042
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837 0.00026
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00025
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600 0.00014
NM_001103.4(ACTN2):c.2367+5G>A rs200469353 0.00014
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001103.4(ACTN2):c.1714C>T (p.Arg572Trp) rs142142718 0.00011
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001103.4(ACTN2):c.2323C>T (p.His775Tyr) rs370677725 0.00006
NM_001103.4(ACTN2):c.1899T>G (p.His633Gln) rs727505112 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001103.4(ACTN2):c.-3G>T rs201920417 0.00003
NM_001103.4(ACTN2):c.2003C>G (p.Thr668Arg) rs397516572 0.00003
NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys) rs145248415 0.00003
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290 0.00003
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln) rs727502888 0.00003
NM_001103.4(ACTN2):c.1057C>T (p.Arg353Trp) rs1150181 0.00002
NM_001103.4(ACTN2):c.1108-3C>T rs372488913 0.00002
NM_001103.4(ACTN2):c.1822C>T (p.Arg608Trp) rs397516571 0.00002
NM_001103.4(ACTN2):c.2108A>T (p.Gln703Leu) rs370862426 0.00002
NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys) rs397516574 0.00002
NM_001103.4(ACTN2):c.536+6C>G rs771398006 0.00002
NM_001103.4(ACTN2):c.745G>A (p.Val249Ile) rs771260546 0.00002
NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys) rs779109533 0.00002
NM_001103.4(ACTN2):c.1384G>T (p.Ala462Ser) rs376923220 0.00001
NM_001103.4(ACTN2):c.2302-3C>A rs727505174 0.00001
NM_001103.4(ACTN2):c.2306A>C (p.Lys769Thr) rs397516573 0.00001
NM_001103.4(ACTN2):c.706A>G (p.Asn236Asp) rs1193355360 0.00001
NM_001103.4(ACTN2):c.1108-10A>G rs397516564
NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val) rs566860712
NM_001103.4(ACTN2):c.1361A>C (p.His454Pro) rs727505063
NM_001103.4(ACTN2):c.1381A>G (p.Ile461Val) rs876657742
NM_001103.4(ACTN2):c.1411C>G (p.Leu471Val) rs397516568
NM_001103.4(ACTN2):c.1460G>T (p.Cys487Phe) rs727504619
NM_001103.4(ACTN2):c.1593G>A (p.Trp531Ter) rs397516570
NM_001103.4(ACTN2):c.1839+5G>C rs797045081
NM_001103.4(ACTN2):c.1975-6C>A rs201255023
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu) rs397516577
NM_001103.4(ACTN2):c.343G>A (p.Val115Met) rs397516579
NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr) rs727505146
NM_001103.4(ACTN2):c.578_583del (p.191HR[1]) rs397516581
NM_001103.4(ACTN2):c.655G>A (p.Ala219Thr) rs1246542277
NM_001103.4(ACTN2):c.736A>G (p.Met246Val) rs397516582
NM_001103.4(ACTN2):c.826A>G (p.Asn276Asp) rs876657743
NM_001103.4(ACTN2):c.829C>G (p.Gln277Glu) rs1553302181

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