ClinVar Miner

List of variants in gene SPG7 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn) rs745444834
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) rs562890289
NM_003119.4(SPG7):c.1553-2_1553-1del rs772828460
NM_003119.4(SPG7):c.1586C>T (p.Ala529Val) rs748600162
NM_003119.4(SPG7):c.1643C>A (p.Ala548Asp) rs863224220
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) rs758702550
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906
NM_003119.4(SPG7):c.2070del (p.Phe691fs) rs1555617559
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys) rs752257333
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413
NM_003119.4(SPG7):c.376+1G>T rs746053679
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) rs912983346
NM_003119.4(SPG7):c.524T>C (p.Leu175Pro) rs149797758
NM_003119.4(SPG7):c.806G>A (p.Trp269Ter) rs1235945505
NM_003119.4(SPG7):c.865C>T (p.Gln289Ter) rs1131691968

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.