ClinVar Miner

List of variants studied for Cone-rod dystrophy 10 by Genome-Nilou Lab

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_022367.4(SEMA4A):c.1716C>T (p.Pro572=) rs12401573 0.52167
NM_022367.4(SEMA4A):c.*37T>C rs41265023 0.05725
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03238
NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser) rs76381440 0.01066
NM_022367.4(SEMA4A):c.1434+12C>A rs114835695 0.00483
NM_022367.4(SEMA4A):c.2027C>T (p.Ala676Val) rs75447909 0.00372
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164 0.00259
NM_022367.4(SEMA4A):c.1670G>A (p.Arg557Gln) rs137997761 0.00088
NM_022367.4(SEMA4A):c.1451G>C (p.Gly484Ala) rs148744804 0.00062
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282 0.00032
NM_022367.4(SEMA4A):c.426C>T (p.Cys142=) rs371685429 0.00019
NM_022367.4(SEMA4A):c.94G>T (p.Gly32Trp) rs553165474 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.1481G>A (p.Arg494Gln) rs559896573 0.00006
NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr) rs747089050 0.00006
NM_022367.4(SEMA4A):c.1028T>C (p.Leu343Pro) rs368854370 0.00005
NM_022367.4(SEMA4A):c.473A>G (p.Asp158Gly) rs200090107 0.00005
NM_022367.4(SEMA4A):c.86C>T (p.Thr29Met) rs1045906206 0.00005
NM_022367.4(SEMA4A):c.1123C>T (p.Arg375Trp) rs201094714 0.00004
NM_022367.4(SEMA4A):c.1214C>T (p.Thr405Met) rs776231562 0.00003
NM_022367.4(SEMA4A):c.944C>T (p.Pro315Leu) rs147148406 0.00003
NM_022367.4(SEMA4A):c.1987G>A (p.Val663Ile) rs202048433 0.00002
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.1337C>T (p.Ala446Val) rs886045366 0.00001
NM_022367.4(SEMA4A):c.1685C>T (p.Pro562Leu) rs780625142 0.00001
NM_022367.4(SEMA4A):c.2131C>T (p.Arg711Trp) rs762468169 0.00001
NM_022367.4(SEMA4A):c.247G>C (p.Ala83Pro) rs746991043 0.00001
NM_022367.4(SEMA4A):c.332G>A (p.Ser111Asn) rs375988988 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.1196A>T (p.Asp399Val) rs727504147
NM_022367.4(SEMA4A):c.1783C>T (p.Pro595Ser) rs1286943189
NM_022367.4(SEMA4A):c.2167C>A (p.Arg723Ser) rs199933282
NM_022367.4(SEMA4A):c.2175_2176dup (p.Glu726fs) rs780625314

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