ClinVar Miner

List of variants in gene STRC studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_153700.2(STRC):c.4842C>T (p.Phe1614=) rs3097773 0.29444
NM_153700.2(STRC):c.4878C>G (p.Leu1626=) rs12438025 0.22424
NM_153700.2(STRC):c.4845-13T>C rs12437957 0.22423
NM_153700.2(STRC):c.3893A>G (p.His1298Arg) rs2920780 0.22075
NM_153700.2(STRC):c.3702G>A (p.Glu1234=) rs62018890 0.15683
NM_153700.2(STRC):c.3360T>C (p.Cys1120=) rs56385906 0.01920
NM_153700.2(STRC):c.4035G>C (p.Leu1345=) rs143345370 0.01824
NM_153700.2(STRC):c.4127+8C>T rs2470137 0.01144
NM_153700.2(STRC):c.498G>A (p.Pro166=) rs139848805 0.00486
NM_153700.2(STRC):c.3540T>G (p.Leu1180=) rs199524735 0.00335
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg) rs200770543 0.00124
NM_153700.2(STRC):c.4917A>C (p.Leu1639=) rs2860666 0.00112
NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln) rs727503449 0.00085
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182 0.00041
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_153700.2(STRC):c.3307-5T>G rs727503446 0.00014
NM_153700.2(STRC):c.3555G>A (p.Leu1185=) rs2597064 0.00014
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter) rs774312182 0.00011
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) rs377480477 0.00011
NM_153700.2(STRC):c.4845C>T (p.Ser1615=) rs184909019 0.00010
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_153700.2(STRC):c.379C>T (p.Arg127Ter) rs771264491 0.00007
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter) rs147717802 0.00006
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr) rs727503447 0.00005
NM_153700.2(STRC):c.3794C>T (p.Pro1265Leu) rs371994634 0.00004
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) rs139956283 0.00002
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter) rs876657725 0.00001
NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter) rs755471554 0.00001
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) rs778909195 0.00001
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443 0.00001
NM_153700.2(STRC):c.4510del (p.Glu1504fs) rs759816064 0.00001
NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter) rs756606635 0.00001
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter) rs769443188 0.00001
15q15.3 deletion
GRCh37/hg19 15q15.3(chr15:43892948-43895542)x1
NC_000015.10:g.(?_43599438)_(43608225_43613711)del
NC_000015.10:g.(?_43906612)_(43906674_)?del
NC_000015.10:g.43600609_43600610delinsAG rs727503441
NC_000015.9:g.(43893213_43893593)_(43897598_43900060)del
NC_000015.9:g.(?_43891760)_(43897598_43900060)del
NC_000015.9:g.(?_43891760)_(43901533_43902509)del
NC_000015.9:g.(?_43891760)_(43910999_?)del
NM_153700.2(STRC):c.1030C>T (p.Arg344Ter)
NM_153700.2(STRC):c.1469T>C (p.Leu490Pro)
NM_153700.2(STRC):c.1576C>T (p.Arg526Cys) rs1555447608
NM_153700.2(STRC):c.1768T>C (p.Cys590Arg)
NM_153700.2(STRC):c.2171_2174del (p.Val724fs) rs786200883
NM_153700.2(STRC):c.22CTG[10] (p.Leu18del) rs1567120678
NM_153700.2(STRC):c.2303_2313+1del rs1021413948
NM_153700.2(STRC):c.2539G>A (p.Ala847Thr)
NM_153700.2(STRC):c.2545C>T (p.Arg849Ter)
NM_153700.2(STRC):c.274C>T (p.Arg92Trp) rs1484849703
NM_153700.2(STRC):c.3091C>A (p.Pro1031Thr) rs1595961729
NM_153700.2(STRC):c.3156dup (p.Cys1053fs) rs786200882
NM_153700.2(STRC):c.3499_4701+1del
NM_153700.2(STRC):c.3557_5328del (p.Gln1186fs)
NM_153700.2(STRC):c.3681+11G>A rs796781098
NM_153700.2(STRC):c.3823G>T (p.Glu1275Ter)
NM_153700.2(STRC):c.3922C>T (p.Gln1308Ter)
NM_153700.2(STRC):c.3958G>T (p.Glu1320Ter) rs1410072763
NM_153700.2(STRC):c.4096G>T (p.Gly1366Ter)
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.4171C>T (p.Arg1391Cys) rs376104748
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer) rs1366021609
NM_153700.2(STRC):c.4484_4485del (p.Phe1495fs)
NM_153700.2(STRC):c.4564G>T (p.Gly1522Ter) rs763904943
NM_153700.2(STRC):c.4701+1G>A rs199839039
NM_153700.2(STRC):c.4765G>T (p.Val1589Phe) rs147963245
NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs) rs727503442
NM_153700.2(STRC):c.4819C>T (p.Gln1607Ter)
NM_153700.2(STRC):c.5060C>A (p.Ala1687Asp)
NM_153700.2(STRC):c.5185C>T (p.Arg1729Ter)
NM_153700.2(STRC):c.583C>T (p.Gln195Ter) rs774990944
NM_153700.2(STRC):c.64+1_3138+1del
NM_153700.2(STRC):c.[4057C>T];[4171C>G]
NM_153700.2:c.(?_1)_(5328_?)del
NM_153700.2:c.(?_3499)_(4993_?)del

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.