ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 12 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_015192.4(PLCB1):c.2474A>G (p.Lys825Arg) rs146646749 0.00023
NM_015192.4(PLCB1):c.116C>T (p.Thr39Ile) rs751520312 0.00014
NM_015192.4(PLCB1):c.1711G>A (p.Val571Met) rs1394924865 0.00001
NM_015192.4(PLCB1):c.3095G>A (p.Arg1032Gln) rs780373377 0.00001
NM_015192.4(PLCB1):c.3336+3A>G rs773248262

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