ClinVar Miner

List of variants in gene SEMA4A reported as uncertain significance for cone-rod dystrophy 10

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 68
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022367.4(SEMA4A):c.-165G>A rs113436119 0.00153
NM_022367.4(SEMA4A):c.2249A>T (p.Asp750Val) rs141707567 0.00137
NM_022367.4(SEMA4A):c.1682G>A (p.Arg561His) rs146011929 0.00128
NM_022367.4(SEMA4A):c.20G>A (p.Gly7Asp) rs145133730 0.00106
NM_022367.4(SEMA4A):c.1451G>C (p.Gly484Ala) rs148744804 0.00062
NM_022367.4(SEMA4A):c.1215G>T (p.Thr405=) rs151260330 0.00047
NM_022367.4(SEMA4A):c.*188G>T rs117762142 0.00046
NM_022367.4(SEMA4A):c.1301T>C (p.Met434Thr) rs146822426 0.00044
NM_022367.4(SEMA4A):c.405T>C (p.Asn135=) rs56271605 0.00040
NM_022367.4(SEMA4A):c.994G>A (p.Gly332Arg) rs144475266 0.00039
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=) rs149711133 0.00038
NM_022367.4(SEMA4A):c.*666C>A rs181676637 0.00033
NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=) rs145993678 0.00024
NM_022367.4(SEMA4A):c.*208A>G rs143262805 0.00023
NM_022367.4(SEMA4A):c.*366G>A rs577699691 0.00019
NM_022367.4(SEMA4A):c.302T>C (p.Ile101Thr) rs149652495 0.00016
NM_022367.4(SEMA4A):c.-64A>G rs753268297 0.00014
NM_022367.4(SEMA4A):c.90C>T (p.Thr30=) rs373565051 0.00014
NM_022367.4(SEMA4A):c.1694-13C>G rs144540956 0.00013
NM_022367.4(SEMA4A):c.*522A>T rs761114677 0.00009
NM_022367.4(SEMA4A):c.1991C>T (p.Pro664Leu) rs200251591 0.00007
NM_022367.4(SEMA4A):c.494C>T (p.Ser165Leu) rs201943133 0.00007
NM_022367.4(SEMA4A):c.1265C>T (p.Thr422Ile) rs145228550 0.00006
NM_022367.4(SEMA4A):c.1653C>A (p.Pro551=) rs757466000 0.00006
NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr) rs747089050 0.00006
NM_022367.4(SEMA4A):c.861G>T (p.Leu287=) rs138398085 0.00006
NM_022367.4(SEMA4A):c.*187G>A rs767596816 0.00005
NM_022367.4(SEMA4A):c.1028T>C (p.Leu343Pro) rs368854370 0.00005
NM_022367.4(SEMA4A):c.1646G>A (p.Ser549Asn) rs199696322 0.00005
NM_022367.4(SEMA4A):c.86C>T (p.Thr29Met) rs1045906206 0.00005
NM_022367.4(SEMA4A):c.*179C>T rs886045367 0.00004
NM_022367.4(SEMA4A):c.*667C>T rs1014678624 0.00004
NM_022367.4(SEMA4A):c.1123C>T (p.Arg375Trp) rs201094714 0.00004
NM_022367.4(SEMA4A):c.1214C>T (p.Thr405Met) rs776231562 0.00004
NM_022367.4(SEMA4A):c.1481G>A (p.Arg494Gln) rs559896573 0.00004
NM_022367.4(SEMA4A):c.247G>C (p.Ala83Pro) rs746991043 0.00004
NM_022367.4(SEMA4A):c.473A>G (p.Asp158Gly) rs200090107 0.00004
NM_022367.4(SEMA4A):c.944C>T (p.Pro315Leu) rs147148406 0.00004
NM_022367.4(SEMA4A):c.1987G>A (p.Val663Ile) rs202048433 0.00002
NM_022367.4(SEMA4A):c.*570A>C rs886045370 0.00001
NM_022367.4(SEMA4A):c.1094C>T (p.Thr365Ile) rs768826705 0.00001
NM_022367.4(SEMA4A):c.1174A>C (p.Met392Leu) rs1475557484 0.00001
NM_022367.4(SEMA4A):c.1287C>G (p.His429Gln) rs368904425 0.00001
NM_022367.4(SEMA4A):c.1685C>T (p.Pro562Leu) rs780625142 0.00001
NM_022367.4(SEMA4A):c.2106C>T (p.Leu702=) rs772147085 0.00001
NM_022367.4(SEMA4A):c.2131C>T (p.Arg711Trp) rs762468169 0.00001
NM_022367.4(SEMA4A):c.394G>A (p.Val132Ile) rs374333337 0.00001
NM_022367.4(SEMA4A):c.427G>A (p.Gly143Ser) rs773687726 0.00001
NM_022367.4(SEMA4A):c.492C>T (p.Ile164=) rs562037528 0.00001
NM_022367.4(SEMA4A):c.712C>T (p.Pro238Ser) rs201715448 0.00001
NM_022367.4(SEMA4A):c.*181C>T rs886045368
NM_022367.4(SEMA4A):c.*371T>C rs886045369
NM_022367.4(SEMA4A):c.*485G>A rs542774465
NM_022367.4(SEMA4A):c.*687T>A rs755447780
NM_022367.4(SEMA4A):c.*711A>C rs886045371
NM_022367.4(SEMA4A):c.1196A>T (p.Asp399Val) rs727504147
NM_022367.4(SEMA4A):c.1258G>A (p.Val420Met) rs1654945793
NM_022367.4(SEMA4A):c.1337C>T (p.Ala446Val) rs886045366
NM_022367.4(SEMA4A):c.1783C>T (p.Pro595Ser) rs1286943189
NM_022367.4(SEMA4A):c.2114C>T (p.Ser705Phe) rs1655387711
NM_022367.4(SEMA4A):c.2134G>A (p.Ala712Thr) rs772819214
NM_022367.4(SEMA4A):c.2167C>A (p.Arg723Ser) rs199933282
NM_022367.4(SEMA4A):c.2175_2176dup (p.Glu726fs) rs780625314
NM_022367.4(SEMA4A):c.332G>A (p.Ser111Asn)
NM_022367.4(SEMA4A):c.810+7G>A rs568949451
NM_022367.4(SEMA4A):c.937G>T (p.Asp313Tyr) rs1461418667
NM_022367.4(SEMA4A):c.94G>T (p.Gly32Trp)
NM_022367.4(SEMA4A):c.95G>T (p.Gly32Val) rs577740555

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.