ClinVar Miner

List of variants in gene ACTN2 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Total variants: 36
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HGVS dbSNP
NM_001103.3(ACTN2):c.1104G>A (p.Val368=) rs397516563
NM_001103.3(ACTN2):c.1107+3G>A
NM_001103.3(ACTN2):c.1107G>A (p.Ser369=) rs369218950
NM_001103.3(ACTN2):c.1162T>A (p.Trp388Arg) rs376144003
NM_001103.3(ACTN2):c.1181G>A (p.Arg394Gln) rs758358941
NM_001103.3(ACTN2):c.1240G>A (p.Glu414Lys)
NM_001103.3(ACTN2):c.1287C>T (p.Tyr429=)
NM_001103.3(ACTN2):c.1325G>A (p.Arg442Gln)
NM_001103.3(ACTN2):c.1358C>T (p.Ala453Val) rs566860712
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.1452G>C (p.Gln484His) rs200529923
NM_001103.3(ACTN2):c.1484C>T (p.Thr495Met) rs200248944
NM_001103.3(ACTN2):c.1524G>T (p.Glu508Asp)
NM_001103.3(ACTN2):c.154C>T (p.Leu52=)
NM_001103.3(ACTN2):c.1552C>T (p.His518Tyr) rs573836993
NM_001103.3(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803
NM_001103.3(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600
NM_001103.3(ACTN2):c.1983C>T (p.Ala661=) rs372137571
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.2196C>T (p.Ala732=)
NM_001103.3(ACTN2):c.2231C>T (p.Thr744Met) rs765747662
NM_001103.3(ACTN2):c.2367+5G>A rs200469353
NM_001103.3(ACTN2):c.2552G>A (p.Arg851His) rs201335965
NM_001103.3(ACTN2):c.2568G>A (p.Pro856=) rs149554430
NM_001103.3(ACTN2):c.2609C>T (p.Ser870Leu) rs368754823
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001103.3(ACTN2):c.419G>A (p.Arg140His) rs370689695
NM_001103.3(ACTN2):c.440C>T (p.Ser147Leu)
NM_001103.3(ACTN2):c.536+6C>G rs771398006
NM_001103.3(ACTN2):c.556C>T (p.Leu186Phe) rs371930065
NM_001103.3(ACTN2):c.581G>A (p.Arg194Gln)
NM_001103.3(ACTN2):c.794C>T (p.Ala265Val) rs794728965
NM_001103.3(ACTN2):c.893G>A (p.Arg298His) rs142482143
NM_001103.3(ACTN2):c.959T>G (p.Leu320Arg)
NM_001103.3(ACTN2):c.982C>T (p.Arg328Trp)

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