ClinVar Miner

List of variants studied for Vici syndrome by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) rs961245497
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter) rs866435487
NM_020964.3(EPG5):c.1370T>C (p.Leu457Pro) rs746862679
NM_020964.3(EPG5):c.2351A>C (p.Gln784Pro) rs754795342
NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter) rs587776941
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) rs587776940
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter) rs587776939
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter) rs1568133724
NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala) rs1568118775
NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter) rs1568112543
NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter) rs1568112516
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_020964.3(EPG5):c.6112T>C (p.Cys2038Arg) rs375057925
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter) rs587776942
NM_020964.3(EPG5):c.6275T>C (p.Leu2092Pro) rs1568104317
NM_020964.3(EPG5):c.7240G>A (p.Glu2414Lys) rs1568094451
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) rs780889226
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289

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