ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development

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Total variants: 56
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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 0.00185
NM_000944.5(PPP3CA):c.1425C>T (p.Gly475=) rs140517920 0.00144
NM_000944.5(PPP3CA):c.1241+17T>C rs202222838 0.00102
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.588G>A (p.Leu196=) rs142339019 0.00024
NM_000944.5(PPP3CA):c.87T>A (p.Leu29=) rs200922134 0.00023
NM_000944.5(PPP3CA):c.138A>G (p.Leu46=) rs143169609 0.00018
NM_000944.5(PPP3CA):c.1389A>G (p.Pro463=) rs200900879 0.00009
NM_000944.5(PPP3CA):c.345C>T (p.Phe115=) rs765912235 0.00006
NM_000944.5(PPP3CA):c.497-20C>G rs540323683 0.00006
NM_000944.5(PPP3CA):c.860+3G>A rs200227626 0.00004
NM_000944.5(PPP3CA):c.535A>G (p.Met179Val) rs138929276 0.00003
NM_000944.5(PPP3CA):c.558C>A (p.Pro186=) rs575861563 0.00003
NM_000944.5(PPP3CA):c.1354A>G (p.Ile452Val) rs749840124 0.00002
NM_000944.5(PPP3CA):c.1148G>T (p.Gly383Val) rs774161035 0.00001
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.*2C>T
NM_000944.5(PPP3CA):c.1082-5T>G rs2110225080
NM_000944.5(PPP3CA):c.1156+20G>C rs370212443
NM_000944.5(PPP3CA):c.1156+20G>T rs370212443
NM_000944.5(PPP3CA):c.1156+9C>T
NM_000944.5(PPP3CA):c.11C>T (p.Pro4Leu)
NM_000944.5(PPP3CA):c.1246_1248dup (p.Glu416_Ser417insGlu)
NM_000944.5(PPP3CA):c.124C>T (p.Arg42Cys) rs767812589
NM_000944.5(PPP3CA):c.1302C>A (p.Ser434Arg) rs369318194
NM_000944.5(PPP3CA):c.1339+13_1339+15dup rs546166325
NM_000944.5(PPP3CA):c.218G>A (p.Arg73Gln) rs141696639
NM_000944.5(PPP3CA):c.249G>T (p.Ala83=)
NM_000944.5(PPP3CA):c.25C>A (p.Pro9Thr) rs746412506
NM_000944.5(PPP3CA):c.334C>T (p.Arg112Cys)
NM_000944.5(PPP3CA):c.37A>C (p.Thr13Pro)
NM_000944.5(PPP3CA):c.530C>G (p.Ala177Gly) rs2110253722
NM_000944.5(PPP3CA):c.570G>C (p.Leu190=)
NM_000944.5(PPP3CA):c.58+74_58+75delinsCG rs368445098
NM_000944.5(PPP3CA):c.59-16_59-15delinsTA
NM_000944.5(PPP3CA):c.59C>T (p.Ala20Val)
NM_000944.5(PPP3CA):c.656A>G (p.Lys219Arg) rs754775984
NM_000944.5(PPP3CA):c.698C>G (p.Ser233Ter)
NM_000944.5(PPP3CA):c.74C>T (p.Pro25Leu)
NM_000944.5(PPP3CA):c.788C>T (p.Pro263Leu)
NM_000944.5(PPP3CA):c.82C>T (p.Arg28Trp) rs770562478
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_000944.5(PPP3CA):c.955+18C>A rs370681817
NM_000944.5(PPP3CA):c.955+18C>T rs370681817
NM_000944.5(PPP3CA):c.956-17C>A

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