ClinVar Miner

List of variants reported as uncertain significance for Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000944.5(PPP3CA):c.345C>T (p.Phe115=) rs765912235 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.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.1433G>A (p.Arg478Gln) rs368195162 0.00001
NM_000944.5(PPP3CA):c.1538A>G (p.Asn513Ser) rs199874915 0.00001
NM_000944.5(PPP3CA):c.829A>G (p.Ile277Val) rs540250871 0.00001
NM_000944.5(PPP3CA):c.*2C>T
NM_000944.5(PPP3CA):c.1082-5T>G rs2110225080
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.218G>A (p.Arg73Gln) rs141696639
NM_000944.5(PPP3CA):c.249G>T (p.Ala83=)
NM_000944.5(PPP3CA):c.334C>T (p.Arg112Cys)
NM_000944.5(PPP3CA):c.37A>C (p.Thr13Pro)
NM_000944.5(PPP3CA):c.570G>C (p.Leu190=)
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.956-17C>A

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