ClinVar Miner

List of variants in gene CASQ2 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 162
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val) rs146333579 0.00076
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp) rs148824162 0.00031
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) rs28730713 0.00024
NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys) rs1193520667 0.00016
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe) rs771298193 0.00009
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile) rs773237428 0.00009
NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn) rs376147306 0.00009
NM_001232.4(CASQ2):c.1015-3C>T rs375320117 0.00008
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys) rs151115064 0.00008
NM_001232.4(CASQ2):c.758G>A (p.Arg253His) rs199571249 0.00008
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn) rs368165922 0.00008
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys) rs375598471 0.00007
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) rs148057999 0.00007
NM_001232.4(CASQ2):c.1121A>G (p.Asp374Gly) rs886045158 0.00006
NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly) rs397516640 0.00006
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe) rs151168851 0.00005
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val) rs764732977 0.00005
NM_001232.4(CASQ2):c.376G>C (p.Asp126His) rs727502908 0.00004
NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys) rs781113955 0.00004
NM_001232.4(CASQ2):c.141G>C (p.Lys47Asn) rs1553197917 0.00003
NM_001232.4(CASQ2):c.175C>T (p.Pro59Ser) rs866858282 0.00003
NM_001232.4(CASQ2):c.234+3A>G rs727502909 0.00003
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys) rs72554062 0.00003
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys) rs373227317 0.00003
NM_001232.4(CASQ2):c.752G>A (p.Arg251His) rs200265771 0.00003
NM_001232.4(CASQ2):c.878G>A (p.Arg293Gln) rs377691566 0.00003
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile) rs771188512 0.00003
NM_001232.4(CASQ2):c.979T>C (p.Phe327Leu) rs976749091 0.00003
NM_001232.4(CASQ2):c.1046A>T (p.Asp349Val) rs372865933 0.00002
NM_001232.4(CASQ2):c.44C>G (p.Ser15Cys) rs185539994 0.00002
NM_001232.4(CASQ2):c.478C>T (p.Arg160Cys) rs750680032 0.00002
NM_001232.4(CASQ2):c.479G>A (p.Arg160His) rs372283956 0.00002
NM_001232.4(CASQ2):c.673A>G (p.Ile225Val) rs774546117 0.00002
NM_001232.4(CASQ2):c.737+6T>A rs760688872 0.00002
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser) rs548536938 0.00002
NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly) rs200899037 0.00001
NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg) rs375811174 0.00001
NM_001232.4(CASQ2):c.1136A>T (p.Asp379Val) rs940257382 0.00001
NM_001232.4(CASQ2):c.1150A>G (p.Asn384Asp) rs772619751 0.00001
NM_001232.4(CASQ2):c.128A>G (p.Lys43Arg) rs1163471411 0.00001
NM_001232.4(CASQ2):c.133G>T (p.Val45Phe) rs746405346 0.00001
NM_001232.4(CASQ2):c.172G>A (p.Glu58Lys) rs376824588 0.00001
NM_001232.4(CASQ2):c.205C>G (p.Gln69Glu) rs761862949 0.00001
NM_001232.4(CASQ2):c.210C>G (p.Phe70Leu) rs774492523 0.00001
NM_001232.4(CASQ2):c.227T>C (p.Val76Ala) rs1649199632 0.00001
NM_001232.4(CASQ2):c.229C>T (p.Leu77Phe) rs781778467 0.00001
NM_001232.4(CASQ2):c.257A>G (p.His86Arg) rs372587044 0.00001
NM_001232.4(CASQ2):c.281T>C (p.Val94Ala) rs755766840 0.00001
NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu) rs750159744 0.00001
NM_001232.4(CASQ2):c.361C>T (p.Arg121Cys) rs570840019 0.00001
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu) rs762328417 0.00001
NM_001232.4(CASQ2):c.449G>T (p.Ser150Ile) rs772041539 0.00001
NM_001232.4(CASQ2):c.469G>C (p.Ala157Pro) rs779063209 0.00001
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr) rs151201435 0.00001
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) rs786205790 0.00001
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn) rs758082383 0.00001
NM_001232.4(CASQ2):c.793T>G (p.Leu265Val) rs772419873 0.00001
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys) rs1230753325 0.00001
NM_001232.4(CASQ2):c.862C>G (p.Leu288Val) rs772096506 0.00001
NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp) rs201306936 0.00001
NM_001232.4(CASQ2):c.884A>G (p.Asn295Ser) rs781565627 0.00001
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr) rs369403991 0.00001
NC_000001.10:g.(?_116243862)_(116287553_?)dup
NC_000001.10:g.(?_116243862)_(116311162_?)dup
NC_000001.10:g.(?_116260441)_(116311162_?)dup
NC_000001.10:g.(?_116275502)_(116280976_?)dup
NC_000001.11:g.(?_115701231)_(115744922_?)dup
NM_001232.4(CASQ2):c.1006G>C (p.Val336Leu)
NM_001232.4(CASQ2):c.1015-1G>A rs1654202571
NM_001232.4(CASQ2):c.101T>G (p.Val34Gly) rs1280686043
NM_001232.4(CASQ2):c.1021A>G (p.Ser341Gly)
NM_001232.4(CASQ2):c.1029G>C (p.Trp343Cys) rs2101052355
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu) rs1295335060
NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser) rs786205792
NM_001232.4(CASQ2):c.1119AGATGATGATGA[1] (p.373EDDD[1]) rs764957093
NM_001232.4(CASQ2):c.1122TGA[2] (p.Asp376del) rs202241842
NM_001232.4(CASQ2):c.1131_1133del (p.Glu377del) rs765914619
NM_001232.4(CASQ2):c.1132GAT[4] (p.Asp382_Asp383del)
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu) rs150486780
NM_001232.4(CASQ2):c.1137T>G (p.Asp379Glu) rs776130201
NM_001232.4(CASQ2):c.1149T>A (p.Asp383Glu) rs1206628721
NM_001232.4(CASQ2):c.115G>A (p.Glu39Lys) rs756636650
NM_001232.4(CASQ2):c.115G>C (p.Glu39Gln)
NM_001232.4(CASQ2):c.1168A>G (p.Asn390Asp) rs1570791816
NM_001232.4(CASQ2):c.1187A>T (p.Asp396Val)
NM_001232.4(CASQ2):c.1188T>A (p.Asp396Glu) rs751885773
NM_001232.4(CASQ2):c.1188TGA[4] (p.Asp398dup) rs72554070
NM_001232.4(CASQ2):c.118A>G (p.Lys40Glu) rs786205797
NM_001232.4(CASQ2):c.1192G>A (p.Asp398Asn) rs1654192683
NM_001232.4(CASQ2):c.146A>G (p.Tyr49Cys)
NM_001232.4(CASQ2):c.158G>A (p.Cys53Tyr) rs151168851
NM_001232.4(CASQ2):c.175C>A (p.Pro59Thr) rs866858282
NM_001232.4(CASQ2):c.226_227inv (p.Val76Thr)
NM_001232.4(CASQ2):c.22A>G (p.Ile8Val) rs1649206559
NM_001232.4(CASQ2):c.235-3C>T rs1186837357
NM_001232.4(CASQ2):c.23T>C (p.Ile8Thr) rs1553197935
NM_001232.4(CASQ2):c.242C>T (p.Ala81Val) rs1648331024
NM_001232.4(CASQ2):c.250C>T (p.Leu84Phe) rs1274422352
NM_001232.4(CASQ2):c.265A>G (p.Ile89Val)
NM_001232.4(CASQ2):c.268G>C (p.Gly90Arg)
NM_001232.4(CASQ2):c.271T>C (p.Phe91Leu) rs1181984320
NM_001232.4(CASQ2):c.278T>C (p.Met93Thr) rs1328122344
NM_001232.4(CASQ2):c.286G>A (p.Ala96Thr) rs2101100994
NM_001232.4(CASQ2):c.292A>G (p.Lys98Glu)
NM_001232.4(CASQ2):c.299C>T (p.Ala100Val)
NM_001232.4(CASQ2):c.305T>A (p.Leu102His)
NM_001232.4(CASQ2):c.31A>T (p.Ile11Phe) rs2101130741
NM_001232.4(CASQ2):c.320-3C>T
NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del) rs1358515759
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val) rs946911897
NM_001232.4(CASQ2):c.337A>C (p.Ser113Arg)
NM_001232.4(CASQ2):c.34T>A (p.Tyr12Asn) rs752330104
NM_001232.4(CASQ2):c.354G>A (p.Lys118=) rs1648148662
NM_001232.4(CASQ2):c.389C>T (p.Ala130Val)
NM_001232.4(CASQ2):c.406G>A (p.Glu136Lys)
NM_001232.4(CASQ2):c.421C>T (p.Leu141=) rs1570831673
NM_001232.4(CASQ2):c.422T>G (p.Leu141Arg) rs1648036832
NM_001232.4(CASQ2):c.446T>G (p.Ile149Ser) rs1060502165
NM_001232.4(CASQ2):c.467_478del (p.Gln156_Glu159del) rs1648034165
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) rs146333579
NM_001232.4(CASQ2):c.487G>A (p.Asp163Asn)
NM_001232.4(CASQ2):c.498A>T (p.Lys166Asn) rs2101091967
NM_001232.4(CASQ2):c.538A>C (p.Lys180Gln)
NM_001232.4(CASQ2):c.541G>C (p.Ala181Pro) rs745879915
NM_001232.4(CASQ2):c.579C>G (p.Ile193Met)
NM_001232.4(CASQ2):c.581A>C (p.Lys194Thr) rs755558916
NM_001232.4(CASQ2):c.606G>A (p.Gly202=) rs1647836874
NM_001232.4(CASQ2):c.646T>G (p.Phe216Val)
NM_001232.4(CASQ2):c.64G>A (p.Gly22Arg)
NM_001232.4(CASQ2):c.650A>T (p.Tyr217Phe) rs373227317
NM_001232.4(CASQ2):c.683C>G (p.Pro228Arg) rs2101079136
NM_001232.4(CASQ2):c.687C>G (p.Asn229Lys) rs2101079130
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser) rs749796276
NM_001232.4(CASQ2):c.737+14C>T
NM_001232.4(CASQ2):c.740C>G (p.Pro247Arg) rs768261470
NM_001232.4(CASQ2):c.749G>T (p.Arg250Leu) rs187306418
NM_001232.4(CASQ2):c.758G>C (p.Arg253Pro) rs199571249
NM_001232.4(CASQ2):c.758G>T (p.Arg253Leu) rs199571249
NM_001232.4(CASQ2):c.783+3A>G rs876657751
NM_001232.4(CASQ2):c.808A>T (p.Ile270Phe)
NM_001232.4(CASQ2):c.809T>C (p.Ile270Thr) rs762381137
NM_001232.4(CASQ2):c.835C>A (p.Pro279Thr) rs769435706
NM_001232.4(CASQ2):c.837A>G (p.Pro279=) rs1647217312
NM_001232.4(CASQ2):c.837A>T (p.Pro279=) rs1647217312
NM_001232.4(CASQ2):c.860T>G (p.Ile287Ser) rs368165922
NM_001232.4(CASQ2):c.865A>G (p.Lys289Glu)
NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro) rs377691566
NM_001232.4(CASQ2):c.894C>A (p.Asn298Lys) rs923161859
NM_001232.4(CASQ2):c.896C>G (p.Pro299Arg) rs974622106
NM_001232.4(CASQ2):c.898_900dup (p.Asp300dup) rs1557785041
NM_001232.4(CASQ2):c.905G>C (p.Ser302Thr) rs979113189
NM_001232.4(CASQ2):c.933T>A (p.Phe311Leu) rs769960615
NM_001232.4(CASQ2):c.937C>G (p.Leu313Val) rs1654321088
NM_001232.4(CASQ2):c.939+3G>A
NM_001232.4(CASQ2):c.959A>C (p.Lys320Thr) rs1654255083
NM_001232.4(CASQ2):c.981C>A (p.Phe327Leu) rs2101053786
NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu)
NM_001232.4(CASQ2):c.98G>T (p.Arg33Leu) rs749547712

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.