ClinVar Miner

List of variants in gene KDM5C reported as benign for Spastic paraplegia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.2243+11G>T rs1977364 0.81756
NM_004187.5(KDM5C):c.522+19G>A rs41308052 0.03118
NM_004187.5(KDM5C):c.564G>A (p.Lys188=) rs61751437 0.01076
NM_004187.5(KDM5C):c.1884G>A (p.Gln628=) rs74850270 0.00847
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=) rs147546892 0.00291
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_004187.5(KDM5C):c.2823A>G (p.Ser941=) rs143955805 0.00143
NM_004187.5(KDM5C):c.408G>C (p.Arg136=) rs149293316 0.00074
NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys) rs140506776 0.00066
NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln) rs139569882 0.00051
NM_004187.5(KDM5C):c.465C>T (p.Ser155=) rs138520224 0.00048
NM_004187.5(KDM5C):c.3411G>A (p.Ala1137=) rs142690298 0.00046
NM_004187.5(KDM5C):c.2726G>A (p.Arg909Gln) rs148661902 0.00042
NM_004187.5(KDM5C):c.3996T>A (p.Ala1332=) rs141284087 0.00041
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=) rs143291826 0.00040
NM_004187.5(KDM5C):c.3935G>A (p.Arg1312His) rs971564188 0.00028
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) rs370000816 0.00026
NM_004187.5(KDM5C):c.1734C>T (p.Ser578=) rs200941258 0.00019
NM_004187.5(KDM5C):c.523-3C>T rs371886616 0.00019
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773 0.00019
NM_004187.5(KDM5C):c.151-7C>T rs367696630 0.00018
NM_004187.5(KDM5C):c.4039-4G>A rs371746707 0.00018
NM_004187.5(KDM5C):c.3997T>G (p.Ser1333Ala) rs146572363 0.00016
NM_004187.5(KDM5C):c.4117+9A>G rs367909568 0.00014
NM_004187.5(KDM5C):c.4587G>A (p.Ala1529=) rs372882867 0.00014
NM_004187.5(KDM5C):c.535C>T (p.Arg179Cys) rs782726212 0.00013
NM_004187.5(KDM5C):c.2112G>A (p.Glu704=) rs782570746 0.00011
NM_004187.5(KDM5C):c.2877T>C (p.Ser959=) rs782391730 0.00010
NM_004187.5(KDM5C):c.3660C>T (p.Leu1220=) rs373545419 0.00008
NM_004187.5(KDM5C):c.792G>T (p.Gly264=) rs782585482 0.00008
NM_004187.5(KDM5C):c.896G>A (p.Ser299Asn) rs782163332 0.00008
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) rs782413552 0.00007
NM_004187.5(KDM5C):c.3439-13C>A rs45494602 0.00006
NM_004187.5(KDM5C):c.3759G>A (p.Pro1253=) rs781847165 0.00006
NM_004187.5(KDM5C):c.3778G>T (p.Ala1260Ser) rs782770109 0.00005
NM_004187.5(KDM5C):c.4114A>G (p.Arg1372Gly) rs782193850 0.00005
NM_004187.5(KDM5C):c.2462A>T (p.Glu821Val) rs377327486 0.00004
NM_004187.5(KDM5C):c.3405G>A (p.Leu1135=) rs781859397 0.00004
NM_004187.5(KDM5C):c.1169G>A (p.Arg390Gln) rs1556849128 0.00003
NM_004187.5(KDM5C):c.2816C>G (p.Ala939Gly) rs782293638 0.00003
NM_004187.5(KDM5C):c.3324C>T (p.Ala1108=) rs782721047 0.00003
NM_004187.5(KDM5C):c.3441C>T (p.Ile1147=) rs45442400 0.00003
NM_004187.5(KDM5C):c.652C>T (p.Pro218Ser) rs782076366 0.00003
NM_004187.5(KDM5C):c.2406T>C (p.Arg802=) rs1407114028 0.00002
NM_004187.5(KDM5C):c.2538A>G (p.Leu846=) rs782193686 0.00002
NM_004187.5(KDM5C):c.2830A>T (p.Arg944Trp) rs1018074229 0.00001
NM_004187.5(KDM5C):c.3439-7A>G rs782026107 0.00001
NM_004187.5(KDM5C):c.3442G>A (p.Val1148Met) rs782205045 0.00001
NM_004187.5(KDM5C):c.3897A>G (p.Glu1299=) rs782180827 0.00001
NM_004187.5(KDM5C):c.4190C>T (p.Ala1397Val) rs782615711 0.00001
NM_004187.5(KDM5C):c.1401+5G>A
NM_004187.5(KDM5C):c.151-12C>G
NM_004187.5(KDM5C):c.1794C>G (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.2041C>A (p.Arg681=)
NM_004187.5(KDM5C):c.2166C>T (p.Tyr722=)
NM_004187.5(KDM5C):c.2374G>C (p.Glu792Gln)
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004187.5(KDM5C):c.261C>T (p.Asp87=)
NM_004187.5(KDM5C):c.2687C>G (p.Ser896Cys)
NM_004187.5(KDM5C):c.2739G>A (p.Val913=)
NM_004187.5(KDM5C):c.2913C>T (p.Ala971=)
NM_004187.5(KDM5C):c.2982-13del
NM_004187.5(KDM5C):c.3051C>G (p.Pro1017=)
NM_004187.5(KDM5C):c.3987A>G (p.Ala1329=)
NM_004187.5(KDM5C):c.4094C>T (p.Pro1365Leu)
NM_004187.5(KDM5C):c.4137G>A (p.Ser1379=)
NM_004187.5(KDM5C):c.4186C>A (p.Arg1396=)
NM_004187.5(KDM5C):c.4227C>T (p.Leu1409=)
NM_004187.5(KDM5C):c.4317+16A>G
NM_004187.5(KDM5C):c.4421G>A (p.Arg1474Gln)
NM_004187.5(KDM5C):c.579C>T (p.His193=)
NM_004187.5(KDM5C):c.782-10T>C
NM_004187.5(KDM5C):c.786G>A (p.Lys262=)
NM_004187.5(KDM5C):c.856A>G (p.Thr286Ala)
NM_004187.5(KDM5C):c.888G>T (p.Glu296Asp)

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.