ClinVar Miner

List of variants reported as likely benign for Vici syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NM_020964.3(EPG5):c.1011T>G (p.Gly337=) rs187606757
NM_020964.3(EPG5):c.1048C>T (p.Arg350Cys) rs148098259
NM_020964.3(EPG5):c.1081C>T (p.Leu361=) rs777877311
NM_020964.3(EPG5):c.1395C>T (p.Ser465=) rs374133150
NM_020964.3(EPG5):c.151C>G (p.Leu51Val) rs188069373
NM_020964.3(EPG5):c.1609G>A (p.Glu537Lys) rs183660877
NM_020964.3(EPG5):c.1749C>T (p.Pro583=) rs746257883
NM_020964.3(EPG5):c.1944-3C>T rs376498905
NM_020964.3(EPG5):c.2100-7C>T rs191189597
NM_020964.3(EPG5):c.2761T>C (p.Leu921=) rs376268597
NM_020964.3(EPG5):c.291G>T (p.Thr97=) rs376360251
NM_020964.3(EPG5):c.2964T>C (p.Cys988=) rs202213194
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723
NM_020964.3(EPG5):c.299C>T (p.Thr100Ile) rs200530606
NM_020964.3(EPG5):c.3079A>G (p.Met1027Val) rs200114829
NM_020964.3(EPG5):c.3235G>A (p.Glu1079Lys) rs199586840
NM_020964.3(EPG5):c.3313C>T (p.His1105Tyr) rs200305944
NM_020964.3(EPG5):c.3385-4A>T rs150567949
NM_020964.3(EPG5):c.3498C>G (p.Leu1166=) rs771587084
NM_020964.3(EPG5):c.3608G>A (p.Arg1203Gln) rs200186919
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His) rs148641800
NM_020964.3(EPG5):c.4062A>G (p.Arg1354=) rs756098385
NM_020964.3(EPG5):c.438G>A (p.Ser146=) rs186410807
NM_020964.3(EPG5):c.4502G>A (p.Arg1501Gln) rs186784974
NM_020964.3(EPG5):c.4544C>T (p.Thr1515Met) rs199811412
NM_020964.3(EPG5):c.4581A>G (p.Leu1527=) rs200617597
NM_020964.3(EPG5):c.4791C>T (p.Ala1597=) rs368086133
NM_020964.3(EPG5):c.4802C>T (p.Thr1601Met) rs200576622
NM_020964.3(EPG5):c.4891G>A (p.Ala1631Thr) rs182512524
NM_020964.3(EPG5):c.5037C>T (p.Tyr1679=) rs374671966
NM_020964.3(EPG5):c.5052G>A (p.Thr1684=) rs199648768
NM_020964.3(EPG5):c.5273A>G (p.Asn1758Ser) rs143519809
NM_020964.3(EPG5):c.5385A>T (p.Ala1795=) rs376809635
NM_020964.3(EPG5):c.5616C>A (p.Thr1872=) rs141282194
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358
NM_020964.3(EPG5):c.6147C>T (p.Tyr2049=) rs371980254
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_020964.3(EPG5):c.6360C>T (p.Leu2120=) rs373515613
NM_020964.3(EPG5):c.6622-6G>T rs1309916888
NM_020964.3(EPG5):c.6730A>G (p.Lys2244Glu) rs560080785
NM_020964.3(EPG5):c.6767-8C>T rs748817848
NM_020964.3(EPG5):c.6855A>T (p.Ala2285=) rs375424781
NM_020964.3(EPG5):c.708G>A (p.Leu236=) rs182077104
NM_020964.3(EPG5):c.7155C>T (p.Ser2385=) rs376292945
NM_020964.3(EPG5):c.7245A>C (p.Ala2415=) rs1245397728
NM_020964.3(EPG5):c.7311C>T (p.Ser2437=) rs377487870
NM_020964.3(EPG5):c.7458C>T (p.Ala2486=) rs374322299
NM_020964.3(EPG5):c.7558-8T>C rs759398169
NM_020964.3(EPG5):c.7621T>C (p.Leu2541=) rs371309452
NM_020964.3(EPG5):c.7674A>G (p.Lys2558=) rs1555658766
NM_020964.3(EPG5):c.7692C>T (p.Leu2564=) rs747189808
NM_020964.3(EPG5):c.800C>T (p.Ser267Leu) rs180913079

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