ClinVar Miner

List of variants reported for Epileptic encephalopathy, infantile or early childhood, 1; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development by Fulgent Genetics, Fulgent Genetics

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000944.5(PPP3CA):c.1156+7G>T rs79436394 0.01493
NM_000944.5(PPP3CA):c.1156+15C>G rs74569968 0.01492
NM_000944.5(PPP3CA):c.1386A>G (p.Ser462=) rs150423845 0.00191
NM_000944.5(PPP3CA):c.1425C>T (p.Gly475=) rs140517920 0.00164
NM_000944.5(PPP3CA):c.1241+17T>C rs202222838 0.00103
NM_000944.5(PPP3CA):c.496+11T>C rs369281154 0.00045
NM_000944.5(PPP3CA):c.384+18C>T rs3730253 0.00037
NM_000944.5(PPP3CA):c.87T>A (p.Leu29=) rs200922134 0.00026
NM_000944.5(PPP3CA):c.588G>A (p.Leu196=) rs142339019 0.00024
NM_000944.5(PPP3CA):c.138A>G (p.Leu46=) rs143169609 0.00019
NM_000944.5(PPP3CA):c.1389A>G (p.Pro463=) rs200900879 0.00007
NM_000944.5(PPP3CA):c.497-20C>G rs540323683 0.00006
NM_000944.5(PPP3CA):c.558C>A (p.Pro186=) rs575861563 0.00003
NM_000944.5(PPP3CA):c.125G>A (p.Arg42His) rs762386324 0.00001
NM_000944.5(PPP3CA):c.1265C>T (p.Thr422Met) rs745416220 0.00001
NM_000944.5(PPP3CA):c.1428A>G (p.Leu476=) rs1196954163 0.00001
NM_000944.5(PPP3CA):c.1433G>A (p.Arg478Gln) rs368195162 0.00001
NM_000944.5(PPP3CA):c.1538A>G (p.Asn513Ser) rs199874915 0.00001
NM_000944.5(PPP3CA):c.519C>T (p.Arg173=) rs752462646 0.00001
NM_000944.5(PPP3CA):c.783-7del rs746185638 0.00001
NM_000944.5(PPP3CA):c.829A>G (p.Ile277Val) rs540250871 0.00001
NM_000944.5(PPP3CA):c.861-14T>A rs780952005 0.00001
NM_000944.5(PPP3CA):c.1156+20G>C rs370212443
NM_000944.5(PPP3CA):c.1156+20G>T rs370212443
NM_000944.5(PPP3CA):c.1339+13_1339+15dup rs546166325
NM_000944.5(PPP3CA):c.656A>G (p.Lys219Arg) rs754775984
NM_000944.5(PPP3CA):c.955+18C>A rs370681817
NM_000944.5(PPP3CA):c.955+18C>T rs370681817

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