ClinVar Miner

List of variants studied for Vici syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu) rs140494095 0.00281
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358 0.00019
NM_020964.3(EPG5):c.4034A>G (p.His1345Arg) rs200456950 0.00007
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter) rs183478189 0.00005
NM_020964.3(EPG5):c.6761C>T (p.Pro2254Leu) rs776541656 0.00004
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) rs961245497 0.00001
NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter) rs761554022 0.00001
NM_020964.3(EPG5):c.3767A>G (p.Glu1256Gly) rs766928627 0.00001
NM_020964.3(EPG5):c.2449del (p.Ser817fs) rs758184848
NM_020964.3(EPG5):c.5543_5545delinsACTCTGAGAGCTCAGA (p.Pro1848fs)
NM_020964.3(EPG5):c.5704dup (p.Tyr1902fs) rs760768451
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020964.3(EPG5):c.6052A>T (p.Lys2018Ter)
NM_020964.3(EPG5):c.6436G>A (p.Gly2146Arg) rs764947795
NM_020964.3(EPG5):c.7442+1G>A
NM_020964.3(EPG5):c.770A>G (p.Lys257Arg)

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