ClinVar Miner

List of variants reported as benign for Infantile spasms

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_152309.3(PIK3AP1):c.1576C>T (p.Leu526=) rs4344416 0.87861
NM_152309.3(PIK3AP1):c.1773G>A (p.Ser591=) rs3748234 0.54017
NM_152309.3(PIK3AP1):c.247G>T (p.Ala83Ser) rs3748229 0.37094
NM_152309.3(PIK3AP1):c.2103T>C (p.Ser701=) rs3748236 0.25229
NM_152309.3(PIK3AP1):c.1913A>G (p.Lys638Arg) rs12784975 0.17461
NM_152309.3(PIK3AP1):c.61G>A (p.Glu21Lys) rs17112076 0.13165
NM_152309.3(PIK3AP1):c.828C>T (p.Ala276=) rs35668691 0.02430
NM_152309.3(PIK3AP1):c.2171-7C>T rs111902593 0.02273
NM_152309.3(PIK3AP1):c.20C>T (p.Pro7Leu) rs73334383 0.01102
NM_152309.3(PIK3AP1):c.1506T>C (p.Asp502=) rs74496843 0.00731
NM_152309.3(PIK3AP1):c.1092G>A (p.Ala364=) rs35035564 0.00647
NM_152309.3(PIK3AP1):c.861T>C (p.Phe287=) rs138990701 0.00235
NM_152309.3(PIK3AP1):c.767G>A (p.Cys256Tyr) rs141221035 0.00177
NM_152309.3(PIK3AP1):c.2076A>G (p.Gly692=) rs141067860 0.00168
NM_152309.3(PIK3AP1):c.2337G>A (p.Val779=) rs145459703 0.00152
NM_152309.3(PIK3AP1):c.975A>G (p.Glu325=) rs34642975 0.00150
NM_152309.3(PIK3AP1):c.549G>A (p.Pro183=) rs139678848 0.00086
NM_152309.3(PIK3AP1):c.387G>A (p.Glu129=) rs149682608 0.00075
NM_152309.3(PIK3AP1):c.1806G>A (p.Thr602=) rs147512410 0.00073
NM_152309.3(PIK3AP1):c.471C>T (p.Asp157=) rs117500254 0.00071
NM_152309.3(PIK3AP1):c.1651G>A (p.Glu551Lys) rs3748233 0.00050
NM_152309.3(PIK3AP1):c.1551T>C (p.Asp517=) rs142087930 0.00048
NM_152309.3(PIK3AP1):c.1735G>A (p.Gly579Arg) rs144966728 0.00048
NM_152309.3(PIK3AP1):c.2379C>T (p.Thr793=) rs201824606 0.00030
NM_152309.3(PIK3AP1):c.360T>C (p.His120=) rs549333065 0.00015
NM_152309.3(PIK3AP1):c.1376-8C>T rs754562989 0.00012
NM_152309.3(PIK3AP1):c.2186G>A (p.Arg729His) rs569632623 0.00010
NM_152309.3(PIK3AP1):c.1863C>T (p.Asn621=) rs775513848 0.00004
NM_152309.3(PIK3AP1):c.2343G>A (p.Pro781=) rs539458415 0.00002
NM_152309.3(PIK3AP1):c.1143A>G (p.Lys381=)
NM_152309.3(PIK3AP1):c.14-17G>A
NM_152309.3(PIK3AP1):c.2242-19C>T

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