ClinVar Miner

List of variants in gene CHCHD10 reported as likely benign for autosomal dominant mitochondrial myopathy with exercise intolerance

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_213720.3(CHCHD10):c.229A>G (p.Ser77Gly) rs370872556 0.00115
NM_213720.3(CHCHD10):c.113C>T (p.Pro38Leu) rs564997204 0.00029
NM_213720.3(CHCHD10):c.403T>C (p.Tyr135His) rs145649831 0.00028
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895 0.00016
NM_213720.3(CHCHD10):c.262-5C>T rs750056280 0.00016
NM_213720.3(CHCHD10):c.378C>T (p.Ser126=) rs199579266 0.00012
NM_213720.3(CHCHD10):c.410-12C>T rs750841860 0.00011
NM_213720.3(CHCHD10):c.410-17T>G rs754306778 0.00011
NM_213720.3(CHCHD10):c.410-19G>C rs754492535 0.00011
NM_213720.3(CHCHD10):c.42-9C>A rs1392906115 0.00009
NM_213720.3(CHCHD10):c.171G>A (p.Val57=) rs780298646 0.00007
NM_213720.3(CHCHD10):c.410-14C>T rs375779737 0.00007
NM_213720.3(CHCHD10):c.132C>T (p.Leu44=) rs776304054 0.00005
NM_213720.3(CHCHD10):c.273C>T (p.Pro91=) rs773772416 0.00005
NM_213720.3(CHCHD10):c.262-4C>T rs1021130344 0.00004
NM_213720.3(CHCHD10):c.153G>T (p.Thr51=) rs772927642 0.00002
NM_213720.3(CHCHD10):c.262-7C>T rs533095236 0.00002
NM_213720.3(CHCHD10):c.189C>T (p.His63=) rs202148090 0.00001
NM_213720.3(CHCHD10):c.192C>T (p.Val64=) rs1392838932 0.00001
NM_213720.3(CHCHD10):c.261+9C>A rs746028073 0.00001
NM_213720.3(CHCHD10):c.306C>T (p.Cys102=) rs527737360 0.00001
NM_213720.3(CHCHD10):c.372C>T (p.Gly124=) rs372902325 0.00001
NM_213720.3(CHCHD10):c.409+11G>A rs745652443 0.00001
NM_213720.3(CHCHD10):c.42-8C>T rs1191330602 0.00001
NM_213720.3(CHCHD10):c.129G>A (p.Gly43=)
NM_213720.3(CHCHD10):c.134T>A (p.Met45Lys)
NM_213720.3(CHCHD10):c.159A>G (p.Ala53=)
NM_213720.3(CHCHD10):c.162G>T (p.Gly54=)
NM_213720.3(CHCHD10):c.168C>G (p.Ala56=) rs13053635
NM_213720.3(CHCHD10):c.207G>A (p.Leu69=)
NM_213720.3(CHCHD10):c.21C>T (p.Ser7=) rs984321947
NM_213720.3(CHCHD10):c.228G>T (p.Gly76=)
NM_213720.3(CHCHD10):c.231C>T (p.Ser77=)
NM_213720.3(CHCHD10):c.234G>C (p.Ser78=)
NM_213720.3(CHCHD10):c.24G>A (p.Ala8=) rs1926992574
NM_213720.3(CHCHD10):c.261+10G>C
NM_213720.3(CHCHD10):c.261+17A>G rs754940184
NM_213720.3(CHCHD10):c.261+7A>G rs2145926622
NM_213720.3(CHCHD10):c.262-14C>T rs1419450340
NM_213720.3(CHCHD10):c.262-18C>T
NM_213720.3(CHCHD10):c.267C>T (p.Pro89=)
NM_213720.3(CHCHD10):c.354C>T (p.Asp118=)
NM_213720.3(CHCHD10):c.357G>T (p.Leu119=)
NM_213720.3(CHCHD10):c.361C>T (p.Leu121=)
NM_213720.3(CHCHD10):c.409+11G>C
NM_213720.3(CHCHD10):c.409+15C>G
NM_213720.3(CHCHD10):c.409+17C>T
NM_213720.3(CHCHD10):c.409+18G>A
NM_213720.3(CHCHD10):c.41+17G>A
NM_213720.3(CHCHD10):c.410-13C>T
NM_213720.3(CHCHD10):c.410-15C>G
NM_213720.3(CHCHD10):c.410-8del rs759453467
NM_213720.3(CHCHD10):c.412C>T (p.Leu138=)
NM_213720.3(CHCHD10):c.42-10A>G
NM_213720.3(CHCHD10):c.42-15C>T
NM_213720.3(CHCHD10):c.42-18T>C
NM_213720.3(CHCHD10):c.42-4G>T
NM_213720.3(CHCHD10):c.42-5C>G rs868345557
NM_213720.3(CHCHD10):c.42-5C>T rs868345557
NM_213720.3(CHCHD10):c.42-5del rs1926955562
NM_213720.3(CHCHD10):c.42-9C>T
NM_213720.3(CHCHD10):c.48A>T (p.Pro16=)
NM_213720.3(CHCHD10):c.54G>A (p.Ala18=) rs1344583612
NM_213720.3(CHCHD10):c.57C>T (p.Pro19=) rs1381948310
NM_213720.3(CHCHD10):c.75G>A (p.Ala25=)
NM_213720.3(CHCHD10):c.75G>C (p.Ala25=)
NM_213720.3(CHCHD10):c.84G>T (p.Pro28=)
NM_213720.3(CHCHD10):c.9G>A (p.Arg3=) rs1165025561

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.