ClinVar Miner

List of variants in gene FSCN2 studied for retinal disorder

Included ClinVar conditions (500):
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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_012418.4(FSCN2):c.738T>C (p.Pro246=) rs34567655 0.08398
NM_012418.4(FSCN2):c.381G>A (p.Pro127=) rs34454351 0.01717
NM_012418.4(FSCN2):c.732G>A (p.Thr244=) rs34797307 0.00864
NM_012418.4(FSCN2):c.966C>T (p.His322=) rs367734858 0.00848
NM_012418.4(FSCN2):c.150C>G (p.Pro50=) rs184519759 0.00391
NM_012418.4(FSCN2):c.49G>A (p.Val17Ile) rs137853900 0.00240
NM_012418.4(FSCN2):c.1092C>T (p.Ile364=) rs188142101 0.00195
NM_012418.4(FSCN2):c.357C>T (p.Ser119=) rs189437871 0.00165
NM_012418.4(FSCN2):c.633G>A (p.Thr211=) rs75815349 0.00165
NM_012418.4(FSCN2):c.538C>T (p.Arg180Trp) rs200332556 0.00049
NM_012418.4(FSCN2):c.72del (p.Thr25fs) rs376633374 0.00024
NM_012418.4(FSCN2):c.718G>A (p.Ala240Thr) rs370156011 0.00019
NM_012418.4(FSCN2):c.442C>T (p.Arg148Trp) rs781899862 0.00018
NM_012418.4(FSCN2):c.228C>T (p.Arg76=) rs782518507 0.00013
NM_012418.4(FSCN2):c.251C>T (p.Pro84Leu) rs373682711 0.00013
NM_012418.4(FSCN2):c.703G>A (p.Ala235Thr) rs199541595 0.00011
NM_012418.4(FSCN2):c.1025G>A (p.Arg342Gln) rs374441539 0.00007
NM_012418.4(FSCN2):c.1106-72G>A rs561020906 0.00006
NM_012418.4(FSCN2):c.539G>A (p.Arg180Gln) rs782188805 0.00006
NM_012418.4(FSCN2):c.1277G>A (p.Arg426His) rs769242340 0.00005
NM_012418.4(FSCN2):c.1048G>A (p.Gly350Arg) rs779314198 0.00004
NM_012418.4(FSCN2):c.1287G>A (p.Gly429=) rs764841344 0.00004
NM_012418.4(FSCN2):c.227G>A (p.Arg76His) rs376532437 0.00003
NM_012418.4(FSCN2):c.54C>T (p.Asn18=) rs782414995 0.00002
NM_012418.4(FSCN2):c.833A>G (p.Asn278Ser) rs988890666 0.00002
NM_012418.4(FSCN2):c.810C>T (p.Tyr270=) rs782805395 0.00001
NM_001077182.3(FSCN2):c.827-1delG
NM_012418.4(FSCN2):c.*1G>A
NM_012418.4(FSCN2):c.1033C>T (p.Leu345Phe)
NM_012418.4(FSCN2):c.1065GAA[2] (p.Lys357del) rs760309853
NM_012418.4(FSCN2):c.1105G>A (p.Gly369Ser) rs376938035
NM_012418.4(FSCN2):c.1106-14G>A
NM_012418.4(FSCN2):c.1106-25G>A
NM_012418.4(FSCN2):c.1106-34G>A
NM_012418.4(FSCN2):c.1106-61C>T
NM_012418.4(FSCN2):c.1226A>G (p.Tyr409Cys) rs1598582453
NM_012418.4(FSCN2):c.1264C>T (p.Arg422Trp) rs527747924
NM_012418.4(FSCN2):c.1274-1G>C
NM_012418.4(FSCN2):c.1300G>A (p.Gly434Ser)
NM_012418.4(FSCN2):c.1376T>C (p.Leu459Pro)
NM_012418.4(FSCN2):c.1415G>C (p.Gly472Ala)
NM_012418.4(FSCN2):c.146A>C (p.Glu49Ala)
NM_012418.4(FSCN2):c.22C>T (p.Gln8Ter)
NM_012418.4(FSCN2):c.384C>T (p.Ala128=)
NM_012418.4(FSCN2):c.408C>T (p.Ala136=)
NM_012418.4(FSCN2):c.452A>G (p.Tyr151Cys)
NM_012418.4(FSCN2):c.469C>T (p.Arg157Trp)
NM_012418.4(FSCN2):c.470G>A (p.Arg157Gln) rs199574936
NM_012418.4(FSCN2):c.673G>T (p.Asp225Tyr) rs782333124
NM_012418.4(FSCN2):c.760C>G (p.Leu254Val)
NM_012418.4(FSCN2):c.829G>A (p.Val277Ile) rs181420326
NM_012418.4(FSCN2):c.886A>G (p.Ile296Val)
NM_012418.4(FSCN2):c.929G>A (p.Gly310Glu)

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