ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 77 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004204.5(PIGQ):c.810C>T (p.Ala270=) rs35227916 0.00397
NM_004204.5(PIGQ):c.1546C>A (p.Arg516Ser) rs144613953 0.00115
NM_004204.5(PIGQ):c.322G>A (p.Glu108Lys) rs200388707 0.00084
NM_004204.5(PIGQ):c.1505G>A (p.Arg502Gln) rs145602990 0.00075
NM_004204.5(PIGQ):c.1117G>A (p.Val373Met) rs150887807 0.00040
NM_004204.5(PIGQ):c.1615C>T (p.Arg539Cys) rs147312685 0.00019
NM_004204.5(PIGQ):c.1069+17C>T rs911815057 0.00009
NM_004204.5(PIGQ):c.91G>A (p.Val31Met) rs148273392 0.00005
NM_004204.5(PIGQ):c.*528GGGCCC[3]

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