ClinVar Miner

List of variants studied for Vici syndrome by Baylor Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.1820C>T (p.Pro607Leu) rs760748113 0.00006
NM_020964.3(EPG5):c.6340C>T (p.Arg2114Cys) rs775329245 0.00004
NM_020964.3(EPG5):c.1696A>G (p.Ser566Gly) rs767119998 0.00003
NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter) rs756503608 0.00003
NM_020964.3(EPG5):c.7735C>G (p.Arg2579Gly) rs1171989598 0.00002
NM_020964.3(EPG5):c.2107A>G (p.Ile703Val) rs769257326 0.00001
NM_020964.3(EPG5):c.4498T>A (p.Leu1500Met) rs201986809 0.00001
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe) rs1599633287
NM_020964.3(EPG5):c.3332T>C (p.Leu1111Pro) rs2050036468
NM_020964.3(EPG5):c.4108C>T (p.Leu1370Phe) rs2049869676
NM_020964.3(EPG5):c.4745T>C (p.Leu1582Pro) rs1345938343
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter) rs372940918

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