ClinVar Miner

List of variants in gene SEMA4A reported as uncertain significance for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_022367.4(SEMA4A):c.*102C>G rs76347207 0.00161
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.224C>G (p.Thr75Ser) rs768178231 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.*334C>T rs148852472
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.1064_1065del (p.Lys355fs)
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.1374A>G (p.Glu458=)
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.2182G>A (p.Ala728Thr) rs1655399336
NM_022367.4(SEMA4A):c.274C>T (p.Pro92Ser)
NM_022367.4(SEMA4A):c.304C>T (p.Pro102Ser)
NM_022367.4(SEMA4A):c.332G>A (p.Ser111Asn)
NM_022367.4(SEMA4A):c.807C>A (p.Cys269Ter)
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

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