ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 77 by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter) rs730882240 0.00002
NM_004204.5(PIGQ):c.968_969del (p.Leu323fs) rs747661902 0.00002
NM_004204.5(PIGQ):c.690-2A>G rs587777543 0.00001
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del) rs766667249
NM_004204.5(PIGQ):c.1578_1579del (p.Arg527fs) rs2035826930

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