ClinVar Miner

List of variants reported as uncertain significance for Immunodeficiency 14

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Total variants: 35
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HGVS dbSNP
NM_005026.5(PIK3CD):c.1002C>G (p.Asn334Lys)
NM_005026.5(PIK3CD):c.1065C>T (p.Cys355=) rs770064539
NM_005026.5(PIK3CD):c.112C>T (p.Arg38Cys)
NM_005026.5(PIK3CD):c.1189G>A (p.Val397Met)
NM_005026.5(PIK3CD):c.1242G>A (p.Ala414=)
NM_005026.5(PIK3CD):c.1319A>G (p.Tyr440Cys)
NM_005026.5(PIK3CD):c.1339+3C>T
NM_005026.5(PIK3CD):c.1379G>A (p.Arg460His) rs373779625
NM_005026.5(PIK3CD):c.141+3A>G
NM_005026.5(PIK3CD):c.142-3C>T
NM_005026.5(PIK3CD):c.1513G>A (p.Glu505Lys) rs545136223
NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly) rs1557669079
NM_005026.5(PIK3CD):c.1709C>T (p.Ser570Phe)
NM_005026.5(PIK3CD):c.1777G>C (p.Gly593Arg) rs143068130
NM_005026.5(PIK3CD):c.1802G>A (p.Arg601Gln)
NM_005026.5(PIK3CD):c.1955+5C>T
NM_005026.5(PIK3CD):c.2074C>G (p.Leu692Val)
NM_005026.5(PIK3CD):c.2168C>T (p.Ala723Val)
NM_005026.5(PIK3CD):c.2214C>A (p.Ser738Arg) rs755934302
NM_005026.5(PIK3CD):c.2311G>A (p.Gly771Ser)
NM_005026.5(PIK3CD):c.2320G>A (p.Val774Met)
NM_005026.5(PIK3CD):c.236_237del (p.Gln79fs) rs1553168726
NM_005026.5(PIK3CD):c.2698A>G (p.Met900Val) rs1553171728
NM_005026.5(PIK3CD):c.2997G>A (p.Lys999=)
NM_005026.5(PIK3CD):c.3029A>C (p.Glu1010Ala) rs142050444
NM_005026.5(PIK3CD):c.521C>T (p.Ser174Leu)
NM_005026.5(PIK3CD):c.557C>T (p.Pro186Leu)
NM_005026.5(PIK3CD):c.580G>A (p.Val194Ile)
NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys)
NM_005026.5(PIK3CD):c.692C>T (p.Pro231Leu)
NM_005026.5(PIK3CD):c.780+3G>A
NM_005026.5(PIK3CD):c.799C>T (p.His267Tyr)
NM_005026.5(PIK3CD):c.854T>C (p.Met285Thr) rs557471275
NM_005026.5(PIK3CD):c.859G>C (p.Asp287His)
NM_005026.5(PIK3CD):c.940G>T (p.Val314Leu)

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