ClinVar Miner

List of variants studied for Immunodeficiency 14

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Total variants: 47
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HGVS dbSNP
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.1002C>G (p.Asn334Lys) rs28730670
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) rs571644641
NM_005026.5(PIK3CD):c.1242G>A (p.Ala414=)
NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg) rs587777390
NM_005026.5(PIK3CD):c.1319A>G (p.Tyr440Cys) rs1035624064
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.1573G>A (p.Glu525Lys) rs587777389
NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly) rs1557669079
NM_005026.5(PIK3CD):c.1709C>T (p.Ser570Phe)
NM_005026.5(PIK3CD):c.1714C>T (p.Pro572Ser)
NM_005026.5(PIK3CD):c.1777G>C (p.Gly593Arg) rs143068130
NM_005026.5(PIK3CD):c.1802G>A (p.Arg601Gln) rs138090835
NM_005026.5(PIK3CD):c.1953C>T (p.Leu651=) rs140468930
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) rs200226248
NM_005026.5(PIK3CD):c.2319C>T (p.Ser773=) rs139848768
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.2838G>A (p.Lys946=) rs1553171834
NM_005026.5(PIK3CD):c.2997G>A (p.Lys999=)
NM_005026.5(PIK3CD):c.3029A>C (p.Glu1010Ala) rs142050444
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005026.5(PIK3CD):c.371-4G>A rs775036315
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.678A>G (p.Thr226=) rs2230735
NM_005026.5(PIK3CD):c.692C>T (p.Pro231Leu)
NM_005026.5(PIK3CD):c.780+3G>A rs370943912
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.931-9G>C rs28730669
NM_005026.5(PIK3CD):c.935C>G (p.Ser312Cys) rs61755420
NM_005026.5(PIK3CD):c.940G>T (p.Val314Leu)

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