List of variants in gene PIGB reported as pathogenic for Developmental and epileptic encephalopathy, 80

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004855.5(PIGB):c.695G>A (p.Arg232His)	rs758196959	0.00002
NM_004855.5(PIGB):c.212G>A (p.Arg71Gln)	rs369838467	0.00001
NM_004855.5(PIGB):c.392T>G (p.Leu131Ter)	rs923907091	0.00001
NM_004855.5(PIGB):c.1162G>C (p.Ala388Pro)	rs1595805026
NM_004855.5(PIGB):c.1220A>G (p.His407Arg)	rs1566960044
NM_004855.5(PIGB):c.847-10A>G	rs779296101
NM_004855.5(PIGB):c.856G>C (p.Val286Leu)	rs1595791368
NM_004855.5(PIGB):c.91A>T (p.Lys31Ter)

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