List of variants in gene AMPD2 reported as likely benign for hereditary spastic paraplegia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 105

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001368809.2(AMPD2):c.223-4C>T	rs116223306	0.00736
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=)	rs114624650	0.00189
NM_001368809.2(AMPD2):c.270G>T (p.Pro90=)	rs139217835	0.00048
NM_001368809.2(AMPD2):c.1992C>T (p.Val664=)	rs143163487	0.00045
NM_001368809.2(AMPD2):c.633C>G (p.Thr211=)	rs141818976	0.00034
NM_001368809.2(AMPD2):c.2124C>T (p.Ser708=)	rs147146700	0.00031
NM_001368809.2(AMPD2):c.2268+10C>T	rs368736094	0.00020
NM_001368809.2(AMPD2):c.219C>T (p.Ala73=)	rs140683735	0.00016
NM_001368809.2(AMPD2):c.582C>T (p.Leu194=)	rs144177097	0.00016
NM_001368809.2(AMPD2):c.174G>A (p.Pro58=)	rs760164880	0.00010
NM_001368809.2(AMPD2):c.726G>A (p.Pro242=)	rs199980707	0.00008
NM_001368809.2(AMPD2):c.2269-9T>G	rs778204030	0.00006
NM_001368809.2(AMPD2):c.537G>A (p.Pro179=)	rs776483432	0.00006
NM_001368809.2(AMPD2):c.-43G>T	rs768664971	0.00004
NM_001368809.2(AMPD2):c.-94G>T	rs1012698060	0.00004
NM_001368809.2(AMPD2):c.1734G>A (p.Lys578=)	rs781503038	0.00004
NM_001368809.2(AMPD2):c.222+19C>T	rs200880116	0.00004
NM_001368809.2(AMPD2):c.2269-12C>T	rs753510697	0.00004
NM_001368809.2(AMPD2):c.423-20C>T	rs112705694	0.00004
NM_001368809.2(AMPD2):c.861-11C>T	rs368738130	0.00004
NM_001368809.2(AMPD2):c.-13C>T	rs759860840	0.00003
NM_001368809.2(AMPD2):c.-19C>T	rs771607197	0.00003
NM_001368809.2(AMPD2):c.-67T>C	rs745646206	0.00003
NM_001368809.2(AMPD2):c.2184C>T (p.Ile728=)	rs367822022	0.00003
NM_001368809.2(AMPD2):c.353+9G>A	rs371094107	0.00003
NM_001368809.2(AMPD2):c.579G>A (p.Ala193=)	rs183170041	0.00003
NM_001368809.2(AMPD2):c.-112G>A	rs759948714	0.00002
NM_001368809.2(AMPD2):c.1862+10C>T	rs371378180	0.00002
NM_001368809.2(AMPD2):c.223-5C>A	rs764953041	0.00002
NM_001368809.2(AMPD2):c.353+10G>A	rs1269768577	0.00002
NM_001368809.2(AMPD2):c.-151T>C	rs748788622	0.00001
NM_001368809.2(AMPD2):c.1779G>A (p.Ala593=)	rs767362652	0.00001
NM_001368809.2(AMPD2):c.177C>T (p.Leu59=)	rs753496081	0.00001
NM_001368809.2(AMPD2):c.189G>A (p.Thr63=)	rs745929697	0.00001
NM_001368809.2(AMPD2):c.216C>T (p.Ile72=)	rs1351463033	0.00001
NM_001368809.2(AMPD2):c.387A>G (p.Gln129=)	rs1399925815	0.00001
NM_001368809.2(AMPD2):c.699C>T (p.Pro233=)	rs778185309	0.00001
NM_001368809.2(AMPD2):c.837C>T (p.Tyr279=)	rs1369584235	0.00001
NM_001368809.2(AMPD2):c.-133C>T
NM_001368809.2(AMPD2):c.120G>A (p.Pro40=)
NM_001368809.2(AMPD2):c.135A>G (p.Arg45=)
NM_001368809.2(AMPD2):c.144G>A (p.Pro48=)
NM_001368809.2(AMPD2):c.150C>T (p.Pro50=)
NM_001368809.2(AMPD2):c.1704T>C (p.Asp568=)
NM_001368809.2(AMPD2):c.1725T>C (p.Asp575=)	rs2101169930
NM_001368809.2(AMPD2):c.1779G>C (p.Ala593=)	rs767362652
NM_001368809.2(AMPD2):c.180C>T (p.Asp60=)
NM_001368809.2(AMPD2):c.1862+10C>G
NM_001368809.2(AMPD2):c.1863-7C>G	rs563578390
NM_001368809.2(AMPD2):c.1863-7C>T
NM_001368809.2(AMPD2):c.1881G>A (p.Thr627=)
NM_001368809.2(AMPD2):c.189G>C (p.Thr63=)	rs745929697
NM_001368809.2(AMPD2):c.1971C>T (p.Leu657=)
NM_001368809.2(AMPD2):c.1983+15C>T
NM_001368809.2(AMPD2):c.2002C>T (p.Leu668=)	rs780963535
NM_001368809.2(AMPD2):c.2013G>A (p.Leu671=)
NM_001368809.2(AMPD2):c.2064C>T (p.Leu688=)
NM_001368809.2(AMPD2):c.2127T>C (p.Thr709=)
NM_001368809.2(AMPD2):c.2151C>T (p.Phe717=)
NM_001368809.2(AMPD2):c.2154C>A (p.Thr718=)
NM_001368809.2(AMPD2):c.2157+14_2157+15delinsCC
NM_001368809.2(AMPD2):c.2157+16G>T
NM_001368809.2(AMPD2):c.2158-14C>T
NM_001368809.2(AMPD2):c.2158-19G>A
NM_001368809.2(AMPD2):c.2158-6G>C
NM_001368809.2(AMPD2):c.2178C>T (p.Tyr726=)
NM_001368809.2(AMPD2):c.222+15C>T
NM_001368809.2(AMPD2):c.222+20G>T
NM_001368809.2(AMPD2):c.2268+11G>A
NM_001368809.2(AMPD2):c.2268+11G>C
NM_001368809.2(AMPD2):c.2268+18T>C
NM_001368809.2(AMPD2):c.2269-13C>T
NM_001368809.2(AMPD2):c.237C>G (p.Arg79=)	rs1650609306
NM_001368809.2(AMPD2):c.2403G>A (p.Thr801=)
NM_001368809.2(AMPD2):c.2448G>A (p.Ala816=)
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=)	rs553448801
NM_001368809.2(AMPD2):c.252C>T (p.Ser84=)
NM_001368809.2(AMPD2):c.276G>A (p.Glu92=)	rs2101154925
NM_001368809.2(AMPD2):c.279C>T (p.Phe93=)	rs2101154929
NM_001368809.2(AMPD2):c.282C>T (p.Pro94=)
NM_001368809.2(AMPD2):c.294C>T (p.Pro98=)
NM_001368809.2(AMPD2):c.321G>A (p.Gln107=)
NM_001368809.2(AMPD2):c.330G>A (p.Glu110=)
NM_001368809.2(AMPD2):c.353+8C>A
NM_001368809.2(AMPD2):c.353+8C>T	rs376994583
NM_001368809.2(AMPD2):c.354-16C>T
NM_001368809.2(AMPD2):c.354-20C>T
NM_001368809.2(AMPD2):c.423-10C>T	rs1010263262
NM_001368809.2(AMPD2):c.423-6C>G
NM_001368809.2(AMPD2):c.456C>T (p.Asp152=)
NM_001368809.2(AMPD2):c.474T>C (p.Arg158=)	rs2101157468
NM_001368809.2(AMPD2):c.531+12G>A	rs765227765
NM_001368809.2(AMPD2):c.532-19C>T
NM_001368809.2(AMPD2):c.574C>A (p.Arg192=)
NM_001368809.2(AMPD2):c.705C>T (p.Thr235=)
NM_001368809.2(AMPD2):c.719-13C>T
NM_001368809.2(AMPD2):c.719-8C>T
NM_001368809.2(AMPD2):c.741G>A (p.Ala247=)
NM_001368809.2(AMPD2):c.741G>T (p.Ala247=)
NM_001368809.2(AMPD2):c.756G>A (p.Pro252=)
NM_001368809.2(AMPD2):c.831C>T (p.His277=)
NM_001368809.2(AMPD2):c.92-15T>C
NM_001368809.2(AMPD2):c.948C>T (p.Pro316=)
NM_001368809.2(AMPD2):c.950+12G>C
NM_001368809.2(AMPD2):c.950+19C>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.