ClinVar Miner

List of variants studied for Vici syndrome by Revvity Omics, Revvity

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00245
NM_020964.3(EPG5):c.2189T>C (p.Val730Ala) rs549760994 0.00028
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358 0.00019
NM_020964.3(EPG5):c.4034A>G (p.His1345Arg) rs200456950 0.00006
NM_020964.3(EPG5):c.5123G>A (p.Gly1708Asp) rs750664406 0.00003
NM_020964.3(EPG5):c.1104C>T (p.Phe368=) rs562098384 0.00002
NM_020964.3(EPG5):c.4771G>A (p.Gly1591Ser) rs370120497 0.00002
NM_020964.3(EPG5):c.1A>G (p.Met1Val) rs1135402732 0.00001
NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter) rs761554022 0.00001
NM_020964.3(EPG5):c.4498T>A (p.Leu1500Met) rs201986809 0.00001
NM_020964.3(EPG5):c.1694C>G (p.Thr565Ser)
NM_020964.3(EPG5):c.2479A>G (p.Ile827Val)
NM_020964.3(EPG5):c.3332T>C (p.Leu1111Pro) rs2050036468
NM_020964.3(EPG5):c.3477G>A (p.Trp1159Ter) rs2145713137
NM_020964.3(EPG5):c.4816G>A (p.Gly1606Ser)
NM_020964.3(EPG5):c.5304+1G>A
NM_020964.3(EPG5):c.5404_5405delinsTT (p.Glu1802Leu)
NM_020964.3(EPG5):c.5623G>T (p.Ala1875Ser)
NM_020964.3(EPG5):c.5840_5845del (p.Ala1947_Gln1948del)
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060

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