ClinVar Miner

List of variants in gene CSRP3 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 107
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003476.5(CSRP3):c.112+278T>C rs7933466 0.44117
NM_003476.5(CSRP3):c.112+341G>C rs7933460 0.44107
NM_003476.5(CSRP3):c.282-175G>T rs1077688 0.34081
NM_003476.5(CSRP3):c.508+73T>A rs2288251 0.32343
NM_003476.5(CSRP3):c.509-110T>C rs45549043 0.21202
NM_003476.5(CSRP3):c.113-232G>A rs10766529 0.17248
NM_003476.5(CSRP3):c.113-261C>T rs10766530 0.17163
NM_003476.5(CSRP3):c.113-92C>T rs2288250 0.14652
NM_003476.5(CSRP3):c.112+126T>C rs7933605 0.14282
NM_003476.5(CSRP3):c.509-215T>C rs11025047 0.09519
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_003476.5(CSRP3):c.509-201C>T rs11025046 0.03387
NM_003476.5(CSRP3):c.282-269C>T rs79400310 0.03323
NM_003476.5(CSRP3):c.509-130C>T rs72904149 0.03292
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801 0.03207
NC_000011.10:g.19202232G>A rs12222160 0.03099
NM_003476.5(CSRP3):c.415-96G>A rs7103903 0.02665
NM_003476.5(CSRP3):c.282-147C>T rs45560438 0.02619
NM_003476.5(CSRP3):c.312C>G (p.Thr104=) rs45582433 0.01721
NM_003476.5(CSRP3):c.415-30T>C rs7103779 0.01252
NM_003476.5(CSRP3):c.508+113del rs375337983 0.00621
NM_003476.5(CSRP3):c.112+245T>G rs141723752 0.00541
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00499
NM_003476.5(CSRP3):c.282-214T>G rs184902464 0.00394
NM_003476.5(CSRP3):c.508+18C>T rs144404101 0.00332
NM_003476.5(CSRP3):c.414+264A>G rs77264304 0.00324
NM_003476.5(CSRP3):c.113-39T>C rs367850115 0.00287
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_003476.5(CSRP3):c.281+25T>G rs191035420 0.00194
NM_003476.5(CSRP3):c.*12G>A rs45607943 0.00108
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
NC_000011.10:g.19202157C>T rs184691637 0.00088
NM_003476.5(CSRP3):c.-46C>T rs373296490 0.00033
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.190C>T (p.Arg64Cys) rs368392588 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.16G>A (p.Gly6Arg) rs185980145 0.00006
NM_003476.5(CSRP3):c.294G>A (p.Pro98=) rs142832902 0.00006
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_003476.3(CSRP3):c.-226G>A rs1057523542 0.00004
NM_003476.5(CSRP3):c.-28-9T>A rs1053281170 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.140C>T (p.Thr47Met) rs397516851 0.00003
NM_003476.5(CSRP3):c.191G>A (p.Arg64His) rs375014380 0.00003
NM_003476.5(CSRP3):c.21C>T (p.Gly7=) rs151177504 0.00003
NM_003476.5(CSRP3):c.22G>A (p.Ala8Thr) rs45531937 0.00003
NM_003476.5(CSRP3):c.256G>A (p.Glu86Lys) rs780917755 0.00003
NM_003476.5(CSRP3):c.282-16C>A rs757074408 0.00003
NM_003476.5(CSRP3):c.568G>T (p.Val190Leu) rs145073736 0.00003
NM_003476.5(CSRP3):c.252G>A (p.Thr84=) rs755614464 0.00002
NM_003476.3(CSRP3):c.-236G>C rs1057524085 0.00001
NM_003476.4(CSRP3):c.-70C>T rs147388951 0.00001
NM_003476.5(CSRP3):c.-3A>C rs760384315 0.00001
NM_003476.5(CSRP3):c.-54G>T rs1057523459 0.00001
NM_003476.5(CSRP3):c.128del (p.Ala43fs) rs1187710437 0.00001
NM_003476.5(CSRP3):c.141G>A (p.Thr47=) rs758842207 0.00001
NM_003476.5(CSRP3):c.152C>A (p.Ala51Asp) rs397516853 0.00001
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg) rs137852764 0.00001
NM_003476.5(CSRP3):c.283T>G (p.Ser95Ala) rs1190724900 0.00001
NM_003476.5(CSRP3):c.302C>T (p.Ser101Leu) rs746707959 0.00001
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter) rs902082118 0.00001
NM_003476.5(CSRP3):c.415-1G>T rs775194825 0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504 0.00001
NM_003476.5(CSRP3):c.465G>A (p.Glu155=) rs200334242 0.00001
NM_003476.5(CSRP3):c.472A>G (p.Asn158Asp) rs1373333255 0.00001
NM_003476.5(CSRP3):c.509-16C>T rs371700321 0.00001
NM_003476.5(CSRP3):c.516T>C (p.Tyr172=) rs727504575 0.00001
NM_003476.5(CSRP3):c.86G>A (p.Ser29Asn) rs372717179 0.00001
NM_003476.5(CSRP3):c.*174T>C rs45597034
NM_003476.5(CSRP3):c.108C>T (p.His36=) rs763193066
NM_003476.5(CSRP3):c.116C>A (p.Ala39Asp) rs748417030
NM_003476.5(CSRP3):c.122_123dup (p.Lys42fs) rs886041190
NM_003476.5(CSRP3):c.147C>A (p.Val49=) rs576346189
NM_003476.5(CSRP3):c.149C>A (p.Ala50Glu) rs139805841
NM_003476.5(CSRP3):c.156T>A (p.His52Gln) rs1020735963
NM_003476.5(CSRP3):c.164A>G (p.Glu55Gly) rs267606753
NM_003476.5(CSRP3):c.174C>T (p.Cys58=) rs1057520959
NM_003476.5(CSRP3):c.229G>T (p.Ala77Ser) rs746207
NM_003476.5(CSRP3):c.26A>C (p.Lys9Thr) rs1352827887
NM_003476.5(CSRP3):c.280C>G (p.Gln94Glu) rs1163785853
NM_003476.5(CSRP3):c.282G>T (p.Gln94His) rs550097061
NM_003476.5(CSRP3):c.299G>T (p.Arg100Leu)
NM_003476.5(CSRP3):c.324C>T (p.Ser108=)
NM_003476.5(CSRP3):c.359G>A (p.Cys120Tyr)
NM_003476.5(CSRP3):c.362del (p.Pro121fs) rs1565050709
NM_003476.5(CSRP3):c.465G>T (p.Glu155Asp) rs200334242
NM_003476.5(CSRP3):c.467C>T (p.Ser156Phe) rs758379114
NM_003476.5(CSRP3):c.496C>G (p.Leu166Val)
NM_003476.5(CSRP3):c.508+17A>T rs373822409
NM_003476.5(CSRP3):c.508+9T>C rs727504517
NM_003476.5(CSRP3):c.508G>T (p.Val170Phe) rs757433657
NM_003476.5(CSRP3):c.509-20C>A rs375020550
NM_003476.5(CSRP3):c.509-3_509-2del rs397516858
NM_003476.5(CSRP3):c.532C>G (p.Pro178Ala) rs749002955
NM_003476.5(CSRP3):c.543del (p.Ile181fs) rs1850456329
NM_003476.5(CSRP3):c.562CAA[1] (p.Gln189del) rs1173035411
NM_003476.5(CSRP3):c.575del (p.Lys192fs) rs1554967246
NM_003476.5(CSRP3):c.82A>G (p.Arg28Gly)
NM_003476.5(CSRP3):c.95A>G (p.Lys32Arg) rs2133516292

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.