ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 12 by Revvity Omics, Revvity

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.2564C>T (p.Ala855Val) rs201764744 0.00004
NM_015192.4(PLCB1):c.3059G>A (p.Arg1020Gln) rs758283980 0.00002
NM_015192.4(PLCB1):c.1232T>C (p.Phe411Ser)
NM_015192.4(PLCB1):c.3394C>T (p.Arg1132Cys)
NM_015192.4(PLCB1):c.437T>C (p.Met146Thr)

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