ClinVar Miner

List of variants in gene CSRP3 reported as uncertain significance for cardiomyopathy

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 225
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HGVS dbSNP gnomAD frequency
NM_003476.4(CSRP3):c.-181delC rs886048102 0.00372
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_003476.4(CSRP3):c.-211C>T rs183992670 0.00265
NM_003476.4(CSRP3):c.-163A>G rs112672382 0.00254
NM_003476.5(CSRP3):c.162G>A (p.Ser54=) rs112848043 0.00104
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_003476.4(CSRP3):c.-74A>C rs45498797 0.00092
NM_003476.5(CSRP3):c.*245T>C rs369635973 0.00081
NM_003476.5(CSRP3):c.*638T>C rs779532194 0.00056
NM_003476.5(CSRP3):c.*415A>G rs180844111 0.00032
NM_003476.4(CSRP3):c.-158A>G rs886048100 0.00019
NM_003476.5(CSRP3):c.175A>G (p.Lys59Glu) rs769003538 0.00016
NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg) rs111868331 0.00011
NM_003476.5(CSRP3):c.414+6A>G rs745491806 0.00010
NM_003476.5(CSRP3):c.190C>T (p.Arg64Cys) rs368392588 0.00009
NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu) rs727504436 0.00009
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile) rs149201422 0.00009
NM_003476.5(CSRP3):c.49G>A (p.Val17Ile) rs767932680 0.00009
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_003476.5(CSRP3):c.148G>A (p.Ala50Thr) rs145300736 0.00006
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg) rs185980145 0.00006
NM_003476.4(CSRP3):c.-157G>A rs886048099 0.00005
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) rs137852765 0.00005
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala) rs397516859 0.00005
NM_003476.5(CSRP3):c.230C>G (p.Ala77Gly) rs772138289 0.00004
NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys) rs201214593 0.00004
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys) rs376198883 0.00004
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) rs142019584 0.00004
NM_003476.5(CSRP3):c.*575T>C rs886048093 0.00003
NM_003476.5(CSRP3):c.112+1G>A rs746990436 0.00003
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met) rs397516851 0.00003
NM_003476.5(CSRP3):c.191G>A (p.Arg64His) rs375014380 0.00003
NM_003476.5(CSRP3):c.214G>A (p.Gly72Arg) rs45552933 0.00003
NM_003476.5(CSRP3):c.22G>A (p.Ala8Thr) rs45531937 0.00003
NM_003476.5(CSRP3):c.242G>A (p.Ser81Asn) rs1401452451 0.00003
NM_003476.5(CSRP3):c.256G>A (p.Glu86Lys) rs780917755 0.00003
NM_003476.5(CSRP3):c.287C>T (p.Pro96Leu) rs766783066 0.00003
NM_003476.5(CSRP3):c.352G>A (p.Glu118Lys) rs763096875 0.00003
NM_003476.5(CSRP3):c.568G>T (p.Val190Leu) rs145073736 0.00003
NM_003476.5(CSRP3):c.437G>A (p.Arg146His) rs377066670 0.00002
NM_003476.5(CSRP3):c.113T>C (p.Met38Thr) rs796360127 0.00001
NM_003476.5(CSRP3):c.152C>A (p.Ala51Asp) rs397516853 0.00001
NM_003476.5(CSRP3):c.168C>G (p.Ile56Met) rs767360228 0.00001
NM_003476.5(CSRP3):c.197A>G (p.Tyr66Cys) rs397516854 0.00001
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg) rs137852764 0.00001
NM_003476.5(CSRP3):c.251C>T (p.Thr84Met) rs777327517 0.00001
NM_003476.5(CSRP3):c.255C>T (p.Gly85=) rs752338221 0.00001
NM_003476.5(CSRP3):c.283T>G (p.Ser95Ala) rs1190724900 0.00001
NM_003476.5(CSRP3):c.284C>T (p.Ser95Phe) rs767477787 0.00001
NM_003476.5(CSRP3):c.286C>T (p.Pro96Ser) rs774530670 0.00001
NM_003476.5(CSRP3):c.293C>T (p.Pro98Leu) rs773411006 0.00001
NM_003476.5(CSRP3):c.29G>A (p.Cys10Tyr) rs141980088 0.00001
NM_003476.5(CSRP3):c.302C>T (p.Ser101Leu) rs746707959 0.00001
NM_003476.5(CSRP3):c.367T>C (p.Cys123Arg) rs1301857786 0.00001
NM_003476.5(CSRP3):c.409G>T (p.Gly137Cys) rs771861706 0.00001
NM_003476.5(CSRP3):c.40G>C (p.Glu14Gln) rs777883490 0.00001
NM_003476.5(CSRP3):c.445A>T (p.Ile149Phe) rs1490491672 0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504 0.00001
NM_003476.5(CSRP3):c.472A>G (p.Asn158Asp) rs1373333255 0.00001
NM_003476.5(CSRP3):c.508+2T>C rs754267141 0.00001
NM_003476.5(CSRP3):c.52del (p.Tyr18fs) rs759305806 0.00001
NM_003476.5(CSRP3):c.532C>T (p.Pro178Ser) rs749002955 0.00001
NM_003476.5(CSRP3):c.537G>A (p.Thr179=) rs886048096 0.00001
NM_003476.5(CSRP3):c.538G>T (p.Gly180Cys) rs547374738 0.00001
NM_003476.5(CSRP3):c.576G>C (p.Lys192Asn) rs141100524 0.00001
NM_003476.5(CSRP3):c.86G>A (p.Ser29Asn) rs372717179 0.00001
NM_003476.5(CSRP3):c.98C>T (p.Thr33Met) rs758947977 0.00001
NC_000011.10:g.(?_19184942)_(19188314_?)del
NC_000011.9:g.(?_19204217)_(19209871_?)del
NC_000011.9:g.(?_19207743)_(19213995_?)del
NM_003476.4(CSRP3):c.-161delG rs138573509
NM_003476.4(CSRP3):c.-162_-161AG[6] rs886048098
NM_003476.4(CSRP3):c.-180delA rs34865888
NM_003476.4(CSRP3):c.-182delT rs886048103
NM_003476.4(CSRP3):c.-195G>A rs569978006
NM_003476.5(CSRP3):c.*159C>T rs886048095
NM_003476.5(CSRP3):c.*292A>T rs1850449954
NM_003476.5(CSRP3):c.*504A>G rs886048094
NM_003476.5(CSRP3):c.*559G>A rs45606836
NM_003476.5(CSRP3):c.-28-17G>T rs1850633333
NM_003476.5(CSRP3):c.109T>C (p.Cys37Arg) rs776468900
NM_003476.5(CSRP3):c.109T>G (p.Cys37Gly) rs776468900
NM_003476.5(CSRP3):c.10_11del (p.Trp4fs) rs1554968150
NM_003476.5(CSRP3):c.113-3C>A
NM_003476.5(CSRP3):c.113-9T>C
NM_003476.5(CSRP3):c.116C>A (p.Ala39Asp) rs748417030
NM_003476.5(CSRP3):c.116C>G (p.Ala39Gly) rs748417030
NM_003476.5(CSRP3):c.119G>A (p.Cys40Tyr) rs1590104486
NM_003476.5(CSRP3):c.127G>T (p.Ala43Ser) rs1174058654
NM_003476.5(CSRP3):c.133G>A (p.Asp45Asn)
NM_003476.5(CSRP3):c.136A>G (p.Ser46Gly)
NM_003476.5(CSRP3):c.143C>A (p.Thr48Lys) rs1850561050
NM_003476.5(CSRP3):c.143C>T (p.Thr48Ile) rs1850561050
NM_003476.5(CSRP3):c.149C>A (p.Ala50Glu) rs139805841
NM_003476.5(CSRP3):c.149C>T (p.Ala50Val) rs139805841
NM_003476.5(CSRP3):c.14G>A (p.Gly5Asp) rs2133516544
NM_003476.5(CSRP3):c.151G>T (p.Ala51Ser) rs1850560688
NM_003476.5(CSRP3):c.154C>T (p.His52Tyr) rs1590104432
NM_003476.5(CSRP3):c.155A>C (p.His52Pro)
NM_003476.5(CSRP3):c.156T>A (p.His52Gln) rs1020735963
NM_003476.5(CSRP3):c.157G>A (p.Glu53Lys)
NM_003476.5(CSRP3):c.159G>C (p.Glu53Asp) rs1253887422
NM_003476.5(CSRP3):c.165del (p.Ile56fs) rs2133511280
NM_003476.5(CSRP3):c.174C>T (p.Cys58=) rs1057520959
NM_003476.5(CSRP3):c.17G>A (p.Gly6Glu) rs1431565691
NM_003476.5(CSRP3):c.181T>C (p.Cys61Arg) rs866941870
NM_003476.5(CSRP3):c.182G>A (p.Cys61Tyr)
NM_003476.5(CSRP3):c.185A>G (p.Tyr62Cys) rs1850559519
NM_003476.5(CSRP3):c.187G>T (p.Gly63Trp)
NM_003476.5(CSRP3):c.190C>A (p.Arg64Ser)
NM_003476.5(CSRP3):c.191G>T (p.Arg64Leu) rs375014380
NM_003476.5(CSRP3):c.196T>A (p.Tyr66Asn) rs1319244603
NM_003476.5(CSRP3):c.208G>T (p.Gly70Trp) rs777211110
NM_003476.5(CSRP3):c.209G>A (p.Gly70Glu) rs1590104371
NM_003476.5(CSRP3):c.214G>T (p.Gly72Trp) rs45552933
NM_003476.5(CSRP3):c.221G>A (p.Gly74Glu) rs1850558110
NM_003476.5(CSRP3):c.223C>G (p.Gln75Glu) rs776862812
NM_003476.5(CSRP3):c.229G>A (p.Ala77Thr) rs746207
NM_003476.5(CSRP3):c.229G>T (p.Ala77Ser) rs746207
NM_003476.5(CSRP3):c.233G>T (p.Gly78Val) rs963128995
NM_003476.5(CSRP3):c.236G>C (p.Cys79Ser)
NM_003476.5(CSRP3):c.238C>G (p.Leu80Val)
NM_003476.5(CSRP3):c.238C>T (p.Leu80Phe) rs779184695
NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser) rs367827746
NM_003476.5(CSRP3):c.265G>T (p.Gly89Cys) rs367827746
NM_003476.5(CSRP3):c.267C>T (p.Gly89=) rs2133510984
NM_003476.5(CSRP3):c.269T>C (p.Leu90Pro) rs760832923
NM_003476.5(CSRP3):c.26A>C (p.Lys9Thr) rs1352827887
NM_003476.5(CSRP3):c.278A>C (p.Gln93Pro) rs2133510956
NM_003476.5(CSRP3):c.280C>G (p.Gln94Glu) rs1163785853
NM_003476.5(CSRP3):c.281+3G>A
NM_003476.5(CSRP3):c.282-15G>C rs752833206
NM_003476.5(CSRP3):c.282-3C>G rs1554967570
NM_003476.5(CSRP3):c.284C>G (p.Ser95Cys)
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs) rs960577385
NM_003476.5(CSRP3):c.28T>C (p.Cys10Arg) rs2133516498
NM_003476.5(CSRP3):c.298C>A (p.Arg100Ser)
NM_003476.5(CSRP3):c.300C>G (p.Arg100=) rs146290726
NM_003476.5(CSRP3):c.301T>A (p.Ser101Thr)
NM_003476.5(CSRP3):c.311C>T (p.Thr104Ile) rs758083208
NM_003476.5(CSRP3):c.319C>A (p.Pro107Thr) rs1318623802
NM_003476.5(CSRP3):c.322del (p.Ser108fs) rs1590103399
NM_003476.5(CSRP3):c.329del (p.Phe110fs) rs2133508524
NM_003476.5(CSRP3):c.32G>A (p.Gly11Glu) rs1196538543
NM_003476.5(CSRP3):c.332C>G (p.Thr111Ser) rs1850524667
NM_003476.5(CSRP3):c.335C>A (p.Ala112Glu)
NM_003476.5(CSRP3):c.335C>G (p.Ala112Gly) rs753711278
NM_003476.5(CSRP3):c.335C>T (p.Ala112Val) rs753711278
NM_003476.5(CSRP3):c.338A>C (p.Lys113Thr)
NM_003476.5(CSRP3):c.349T>C (p.Ser117Pro)
NM_003476.5(CSRP3):c.353A>G (p.Glu118Gly) rs869025376
NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp) rs876657767
NM_003476.5(CSRP3):c.354G>T (p.Glu118Asp) rs876657767
NM_003476.5(CSRP3):c.357G>T (p.Lys119Asn)
NM_003476.5(CSRP3):c.358T>C (p.Cys120Arg) rs2133508417
NM_003476.5(CSRP3):c.35C>G (p.Ala12Gly)
NM_003476.5(CSRP3):c.362del (p.Pro121fs) rs1565050709
NM_003476.5(CSRP3):c.370G>A (p.Gly124Ser)
NM_003476.5(CSRP3):c.372C>T (p.Gly124=)
NM_003476.5(CSRP3):c.377C>T (p.Ser126Leu)
NM_003476.5(CSRP3):c.37T>C (p.Cys13Arg) rs1257113692
NM_003476.5(CSRP3):c.382T>C (p.Tyr128His) rs1565050687
NM_003476.5(CSRP3):c.385G>T (p.Ala129Ser)
NM_003476.5(CSRP3):c.386C>G (p.Ala129Gly) rs760292738
NM_003476.5(CSRP3):c.388G>C (p.Ala130Pro) rs869025377
NM_003476.5(CSRP3):c.38G>A (p.Cys13Tyr)
NM_003476.5(CSRP3):c.391G>C (p.Glu131Gln)
NM_003476.5(CSRP3):c.402G>A (p.Met134Ile)
NM_003476.5(CSRP3):c.403G>A (p.Gly135Arg) rs1850522271
NM_003476.5(CSRP3):c.415-10T>A
NM_003476.5(CSRP3):c.415-11G>T rs886048097
NM_003476.5(CSRP3):c.415-1G>A rs775194825
NM_003476.5(CSRP3):c.415-3C>T
NM_003476.5(CSRP3):c.415-7_415-6delinsTA rs2133507010
NM_003476.5(CSRP3):c.424A>G (p.Lys142Glu) rs2133506962
NM_003476.5(CSRP3):c.437G>T (p.Arg146Leu)
NM_003476.5(CSRP3):c.439T>C (p.Cys147Arg) rs2133506925
NM_003476.5(CSRP3):c.43A>G (p.Lys15Glu)
NM_003476.5(CSRP3):c.443C>T (p.Ala148Val) rs2133506914
NM_003476.5(CSRP3):c.452G>A (p.Gly151Glu) rs878854613
NM_003476.5(CSRP3):c.457_458del (p.Leu154fs) rs748393033
NM_003476.5(CSRP3):c.459T>A (p.Ser153Arg) rs1590102813
NM_003476.5(CSRP3):c.460C>G (p.Leu154Val)
NM_003476.5(CSRP3):c.461T>G (p.Leu154Arg) rs1554967431
NM_003476.5(CSRP3):c.467C>T (p.Ser156Phe) rs758379114
NM_003476.5(CSRP3):c.468del (p.Thr157fs) rs2133506845
NM_003476.5(CSRP3):c.479C>A (p.Thr160Asn)
NM_003476.5(CSRP3):c.481G>A (p.Asp161Asn)
NM_003476.5(CSRP3):c.481G>C (p.Asp161His)
NM_003476.5(CSRP3):c.483dup (p.Lys162fs) rs1436046253
NM_003476.5(CSRP3):c.490G>A (p.Gly164Arg) rs2133506813
NM_003476.5(CSRP3):c.496C>G (p.Leu166Val)
NM_003476.5(CSRP3):c.497T>G (p.Leu166Arg) rs1565050249
NM_003476.5(CSRP3):c.49_55del (p.Val17fs) rs776444956
NM_003476.5(CSRP3):c.49del (p.Val17fs) rs869025378
NM_003476.5(CSRP3):c.508+5G>C
NM_003476.5(CSRP3):c.509-7T>G rs1565049368
NM_003476.5(CSRP3):c.50T>A (p.Val17Asp) rs1060500131
NM_003476.5(CSRP3):c.511T>G (p.Cys171Gly) rs770760020
NM_003476.5(CSRP3):c.514T>C (p.Tyr172His) rs1850457848
NM_003476.5(CSRP3):c.516T>A (p.Tyr172Ter)
NM_003476.5(CSRP3):c.518C>T (p.Ala173Val) rs1175934112
NM_003476.5(CSRP3):c.524A>G (p.Asn175Ser) rs370147131
NM_003476.5(CSRP3):c.524dup (p.Asn175fs) rs1554967256
NM_003476.5(CSRP3):c.526T>G (p.Phe176Val) rs2133503927
NM_003476.5(CSRP3):c.533C>T (p.Pro178Leu)
NM_003476.5(CSRP3):c.539G>T (p.Gly180Val) rs727504899
NM_003476.5(CSRP3):c.541A>G (p.Ile181Val)
NM_003476.5(CSRP3):c.542T>C (p.Ile181Thr) rs1565049312
NM_003476.5(CSRP3):c.553G>A (p.Gly185Ser)
NM_003476.5(CSRP3):c.55C>G (p.His19Asp)
NM_003476.5(CSRP3):c.55del (p.His19fs) rs1554968138
NM_003476.5(CSRP3):c.562C>G (p.Gln188Glu) rs2133503835
NM_003476.5(CSRP3):c.562CAA[1] (p.Gln189del) rs1173035411
NM_003476.5(CSRP3):c.580G>C (p.Glu194Gln)
NM_003476.5(CSRP3):c.583T>A (p.Ter195Arg) rs774359383
NM_003476.5(CSRP3):c.583T>C (p.Ter195Arg)
NM_003476.5(CSRP3):c.5C>A (p.Pro2Gln)
NM_003476.5(CSRP3):c.72del (p.Gln24fs) rs766395852
NM_003476.5(CSRP3):c.73T>A (p.Cys25Ser) rs2133516363
NM_003476.5(CSRP3):c.76A>G (p.Asn26Asp) rs1408098337
NM_003476.5(CSRP3):c.78T>G (p.Asn26Lys)
NM_003476.5(CSRP3):c.82_85del (p.Arg28fs) rs2133516329
NM_003476.5(CSRP3):c.88T>C (p.Phe30Leu) rs2133516315
NM_003476.5(CSRP3):c.93C>G (p.His31Gln) rs863225265

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