ClinVar Miner

List of variants in gene combination CAPN3, LOC126862115 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324 0.00613
NM_000070.3(CAPN3):c.492C>T (p.His164=) rs746311570 0.00004
NM_000070.3(CAPN3):c.402C>T (p.Ala134=) rs759713838 0.00001
NM_000070.3(CAPN3):c.417C>T (p.Thr139=) rs2053400365 0.00001
NM_000070.3(CAPN3):c.450C>T (p.Pro150=) rs1255302975 0.00001
NM_000070.3(CAPN3):c.453T>C (p.His151=) rs1193719537 0.00001
NM_000070.3(CAPN3):c.456T>C (p.Asp152=) rs751448923 0.00001
NM_000070.3(CAPN3):c.480A>T (p.Ala160=) rs779579276 0.00001
NM_000070.3(CAPN3):c.380-15T>C
NM_000070.3(CAPN3):c.380-8G>A rs1415586798
NM_000070.3(CAPN3):c.381G>T (p.Gly127=)
NM_000070.3(CAPN3):c.396C>G (p.Leu132=)
NM_000070.3(CAPN3):c.396C>T (p.Leu132=)
NM_000070.3(CAPN3):c.405T>A (p.Ile135=) rs568666121
NM_000070.3(CAPN3):c.408C>G (p.Ala136=) rs775861630
NM_000070.3(CAPN3):c.408C>T (p.Ala136=) rs775861630
NM_000070.3(CAPN3):c.423C>T (p.Asn141=)
NM_000070.3(CAPN3):c.438C>T (p.Phe146=)
NM_000070.3(CAPN3):c.444C>A (p.Val148=)
NM_000070.3(CAPN3):c.459A>G (p.Gln153=)
NM_000070.3(CAPN3):c.468C>A (p.Ile156=) rs143942248
NM_000070.3(CAPN3):c.468C>T (p.Ile156=) rs143942248
NM_000070.3(CAPN3):c.480A>C (p.Ala160=)
NM_000070.3(CAPN3):c.480A>G (p.Ala160=)
NM_000070.3(CAPN3):c.483G>A (p.Gly161=)
NM_000070.3(CAPN3):c.498+11G>A
NM_000070.3(CAPN3):c.498+11G>T
NM_000070.3(CAPN3):c.498+14A>G
NM_000070.3(CAPN3):c.498+16T>A
NM_000070.3(CAPN3):c.498+16T>C
NM_000070.3(CAPN3):c.498+20G>A

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.