ClinVar Miner

List of variants reported as likely benign for hereditary sensory and autonomic neuropathy with spastic paraplegia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012073.5(CCT5):c.166+8del rs773556943 0.00069
NM_012073.5(CCT5):c.954C>T (p.Asn318=) rs150870419 0.00068
NM_012073.5(CCT5):c.1425C>T (p.Thr475=) rs370529963 0.00021
NM_012073.5(CCT5):c.1161T>C (p.Ile387=) rs377234917 0.00014
NM_012073.5(CCT5):c.753C>T (p.Leu251=) rs755384536 0.00009
NM_012073.5(CCT5):c.1180-4T>C rs751954199 0.00008
NM_012073.5(CCT5):c.1070G>A (p.Gly357Asp) rs143444882 0.00006
NM_012073.5(CCT5):c.1075G>A (p.Val359Ile) rs147989324 0.00004
NM_012073.5(CCT5):c.332-17T>C rs372131014 0.00004
NM_012073.5(CCT5):c.759T>C (p.Cys253=) rs542323956 0.00004
NM_012073.5(CCT5):c.106-6C>T rs201641048 0.00003
NM_012073.5(CCT5):c.1499-14C>A rs772511157 0.00003
NM_012073.5(CCT5):c.1499-20A>G rs746431065 0.00003
NM_012073.5(CCT5):c.36T>C (p.Tyr12=) rs111848991 0.00003
NM_012073.5(CCT5):c.1050C>T (p.Ala350=) rs751586130 0.00002
NM_012073.5(CCT5):c.648C>T (p.Gly216=) rs754143874 0.00002
NM_012073.5(CCT5):c.651C>A (p.Gly217=) rs145578766 0.00002
NM_012073.5(CCT5):c.1005C>T (p.Ile335=) rs1282889055 0.00001
NM_012073.5(CCT5):c.106-10G>C rs1468015293 0.00001
NM_012073.5(CCT5):c.1206T>C (p.Leu402=) rs943286316 0.00001
NM_012073.5(CCT5):c.1209C>T (p.His403=) rs771307325 0.00001
NM_012073.5(CCT5):c.1308G>A (p.Glu436=) rs772175136 0.00001
NM_012073.5(CCT5):c.1311G>A (p.Ala437=) rs746715722 0.00001
NM_012073.5(CCT5):c.1318-4C>T rs1404507806 0.00001
NM_012073.5(CCT5):c.1359C>T (p.Asp453=) rs751771583 0.00001
NM_012073.5(CCT5):c.222G>A (p.Gly74=) rs1234851468 0.00001
NM_012073.5(CCT5):c.724-6C>T rs781230840 0.00001
NM_012073.5(CCT5):c.840C>T (p.Tyr280=) rs978388396 0.00001
NM_012073.5(CCT5):c.993+14C>T rs1170598436 0.00001
NM_012073.5(CCT5):c.1041G>A (p.Glu347=) rs2126514873
NM_012073.5(CCT5):c.1044C>T (p.Leu348=) rs1554011541
NM_012073.5(CCT5):c.106-12T>G
NM_012073.5(CCT5):c.1065T>C (p.Phe355=)
NM_012073.5(CCT5):c.1179+12A>G
NM_012073.5(CCT5):c.1236C>T (p.Leu412=)
NM_012073.5(CCT5):c.1248T>C (p.Asn416=)
NM_012073.5(CCT5):c.1290C>T (p.Ala430=)
NM_012073.5(CCT5):c.1291C>T (p.Leu431=)
NM_012073.5(CCT5):c.1317+14G>A
NM_012073.5(CCT5):c.1318-8C>A
NM_012073.5(CCT5):c.1318-8C>T rs927002228
NM_012073.5(CCT5):c.1356C>T (p.Ala452=)
NM_012073.5(CCT5):c.1449G>A (p.Lys483=)
NM_012073.5(CCT5):c.1498+15C>T
NM_012073.5(CCT5):c.1498+16G>A
NM_012073.5(CCT5):c.1498+9C>T
NM_012073.5(CCT5):c.1623A>G (p.Glu541=) rs758936847
NM_012073.5(CCT5):c.166+14A>G
NM_012073.5(CCT5):c.166+18C>T
NM_012073.5(CCT5):c.166+19G>A
NM_012073.5(CCT5):c.166+7G>C rs1561044915
NM_012073.5(CCT5):c.167-13C>T
NM_012073.5(CCT5):c.167-16A>G
NM_012073.5(CCT5):c.18C>T (p.Thr6=)
NM_012073.5(CCT5):c.288G>A (p.Lys96=)
NM_012073.5(CCT5):c.300T>C (p.Asp100=)
NM_012073.5(CCT5):c.318C>T (p.Thr106=) rs2126500116
NM_012073.5(CCT5):c.331+13A>G
NM_012073.5(CCT5):c.332-14T>C
NM_012073.5(CCT5):c.334C>T (p.Leu112=)
NM_012073.5(CCT5):c.360G>A (p.Ala120=)
NM_012073.5(CCT5):c.402C>T (p.Ala134=)
NM_012073.5(CCT5):c.476T>A (p.Ile159Lys)
NM_012073.5(CCT5):c.48C>T (p.Phe16=)
NM_012073.5(CCT5):c.516G>A (p.Thr172=)
NM_012073.5(CCT5):c.570G>C (p.Val190=)
NM_012073.5(CCT5):c.609C>T (p.Asp203=)
NM_012073.5(CCT5):c.6G>A (p.Ala2=)
NM_012073.5(CCT5):c.723+10T>C rs754237380
NM_012073.5(CCT5):c.724-9C>T
NM_012073.5(CCT5):c.738G>C (p.Ala246=) rs11557649
NM_012073.5(CCT5):c.873+11C>G
NM_012073.5(CCT5):c.924T>C (p.Asp308=)
NM_012073.5(CCT5):c.942T>A (p.Leu314=)
NM_012073.5(CCT5):c.993+10T>A rs2126513359
NM_012073.5(CCT5):c.993+15G>A
NM_012073.5(CCT5):c.994-5A>C
NM_012073.5(CCT5):c.99C>G (p.Ala33=)

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.