ClinVar Miner

List of variants in gene ACTA2 reported as uncertain significance by GeneDx

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001613.4(ACTA2):c.607G>A (p.Val203Ile) rs397516684 0.00004
NM_001613.4(ACTA2):c.401T>C (p.Met134Thr) rs181698127 0.00003
NM_001613.4(ACTA2):c.959C>T (p.Thr320Met) rs757656209 0.00003
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn) rs777832794 0.00003
NM_001613.4(ACTA2):c.129+5G>A rs373402293 0.00002
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr) rs772919504 0.00001
NM_001613.4(ACTA2):c.1112T>C (p.Ile371Thr) rs778887472 0.00001
NM_001613.4(ACTA2):c.13G>C (p.Glu5Gln) rs886047453 0.00001
NM_001613.4(ACTA2):c.1A>G (p.Met1Val) rs794728019 0.00001
NM_001613.4(ACTA2):c.247G>A (p.Asp83Asn) rs794728023 0.00001
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly) rs779757924 0.00001
NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter) rs772473154 0.00001
NM_001613.4(ACTA2):c.554G>A (p.Arg185Gln) rs1057521105 0.00001
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys) rs772862676 0.00001
NM_001613.4(ACTA2):c.623G>A (p.Arg208His) rs1057521703 0.00001
NM_001613.4(ACTA2):c.962C>G (p.Ala321Gly) rs767223356 0.00001
NM_001613.4(ACTA2):c.995T>C (p.Ile332Thr) rs1314144330 0.00001
NM_001613.4(ACTA2):c.1003C>G (p.Pro335Ala) rs1057518929
NM_001613.4(ACTA2):c.1005G>A (p.Pro335=) rs775742052
NM_001613.4(ACTA2):c.101C>T (p.Pro34Leu)
NM_001613.4(ACTA2):c.1026G>A (p.Trp342Ter) rs794728032
NM_001613.4(ACTA2):c.1051_1052del (p.Leu351fs) rs1845712598
NM_001613.4(ACTA2):c.1112T>A (p.Ile371Asn) rs778887472
NM_001613.4(ACTA2):c.1121G>A (p.Arg374His) rs1370988055
NM_001613.4(ACTA2):c.1132T>C (p.Ter378Gln) rs878854465
NM_001613.4(ACTA2):c.178G>A (p.Ala60Thr) rs794728022
NM_001613.4(ACTA2):c.17A>G (p.Asp6Gly) rs1064796603
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu) rs1060500134
NM_001613.4(ACTA2):c.226G>A (p.Gly76Ser) rs1064793016
NM_001613.4(ACTA2):c.229A>G (p.Ile77Val) rs754716869
NM_001613.4(ACTA2):c.258+2T>G rs2133269765
NM_001613.4(ACTA2):c.283G>A (p.Glu95Lys) rs1064796442
NM_001613.4(ACTA2):c.290G>A (p.Arg97His) rs1055787195
NM_001613.4(ACTA2):c.344A>G (p.Lys115Arg) rs794728024
NM_001613.4(ACTA2):c.362T>C (p.Met121Thr) rs2494554356
NM_001613.4(ACTA2):c.367C>T (p.Gln123Ter) rs1845899288
NM_001613.4(ACTA2):c.369+4A>G
NM_001613.4(ACTA2):c.370-14G>A rs2494543155
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val) rs397516683
NM_001613.4(ACTA2):c.449C>A (p.Thr150Lys)
NM_001613.4(ACTA2):c.478G>A (p.Gly160Ser) rs794728026
NM_001613.4(ACTA2):c.515C>T (p.Ala172Val) rs1057524106
NM_001613.4(ACTA2):c.523dup (p.His175fs) rs1554841292
NM_001613.4(ACTA2):c.553C>G (p.Arg185Gly) rs772473154
NM_001613.4(ACTA2):c.611C>T (p.Thr204Ile) rs1057522870
NM_001613.4(ACTA2):c.616+5G>C rs1845842113
NM_001613.4(ACTA2):c.622C>T (p.Arg208Cys) rs1057523339
NM_001613.4(ACTA2):c.629T>A (p.Ile210Asn) rs1057523093
NM_001613.4(ACTA2):c.631G>A (p.Val211Ile) rs2133250754
NM_001613.4(ACTA2):c.649_652dup (p.Leu218fs)
NM_001613.4(ACTA2):c.720G>T (p.Lys240Asn) rs727502878
NM_001613.4(ACTA2):c.757G>A (p.Gly253Arg) rs1252359045
NM_001613.4(ACTA2):c.763G>A (p.Glu255Lys) rs794728027
NM_001613.4(ACTA2):c.766C>T (p.Arg256Cys) rs886038852
NM_001613.4(ACTA2):c.767G>A (p.Arg256His) rs766734961
NM_001613.4(ACTA2):c.808G>A (p.Gly270Arg) rs794728028
NM_001613.4(ACTA2):c.809G>A (p.Gly270Glu) rs794728029
NM_001613.4(ACTA2):c.816G>C (p.Glu272Asp) rs2133246658
NM_001613.4(ACTA2):c.835A>G (p.Thr279Ala)
NM_001613.4(ACTA2):c.855G>T (p.Met285Ile) rs794728030
NM_001613.4(ACTA2):c.866T>C (p.Ile289Thr)
NM_001613.4(ACTA2):c.876G>C (p.Arg292Ser)
NM_001613.4(ACTA2):c.916A>G (p.Thr306Ala) rs1064796445
NM_001613.4(ACTA2):c.954G>C (p.Glu318Asp) rs779117107
NM_001613.4(ACTA2):c.958A>C (p.Thr320Pro) rs1803027

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