ClinVar Miner

List of variants studied for Immunodeficiency 23

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Total variants: 43
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HGVS dbSNP
NM_015599.3(PGM3):c.-2-166C>G
NM_015599.3(PGM3):c.-2-190T>A rs73749738
NM_015599.3(PGM3):c.-2-208A>G
NM_015599.3(PGM3):c.-2-209C>A rs1438440008
NM_015599.3(PGM3):c.-2-226T>C rs373825865
NM_015599.3(PGM3):c.1020_1022del (p.Glu340_Val341delinsAsp) rs587777416
NM_015599.3(PGM3):c.1085A>T (p.Glu362Val)
NM_015599.3(PGM3):c.1135T>C (p.Phe379Leu)
NM_015599.3(PGM3):c.1174G>C (p.Glu392Gln) rs149679266
NM_015599.3(PGM3):c.1268T>C (p.Met423Thr) rs1554257039
NM_015599.3(PGM3):c.1268T>G (p.Met423Arg) rs1554257039
NM_015599.3(PGM3):c.1327C>G (p.Leu443Val) rs141509908
NM_015599.3(PGM3):c.1327C>T (p.Leu443Phe)
NM_015599.3(PGM3):c.1352A>G (p.Gln451Arg) rs587777565
NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile) rs201593125
NM_015599.3(PGM3):c.1354_1358del (p.Leu452fs) rs587777414
NM_015599.3(PGM3):c.1464C>T (p.Tyr488=) rs34873318
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) rs144104577
NM_015599.3(PGM3):c.1501G>C (p.Glu501Gln) rs587777413
NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr) rs267608261
NM_015599.3(PGM3):c.1510G>A (p.Val504Ile)
NM_015599.3(PGM3):c.1592C>T (p.Ala531Val)
NM_015599.3(PGM3):c.1610G>T (p.Arg537Met)
NM_015599.3(PGM3):c.181G>T (p.Val61Leu)
NM_015599.3(PGM3):c.219A>G (p.Val73=) rs752657453
NM_015599.3(PGM3):c.248T>C (p.Leu83Ser) rs267608260
NM_015599.3(PGM3):c.325A>T (p.Ile109Phe) rs140499200
NM_015599.3(PGM3):c.33A>G (p.Ala11=) rs150763574
NM_015599.3(PGM3):c.389+3G>A rs201392846
NM_015599.3(PGM3):c.389+4A>G
NM_015599.3(PGM3):c.450A>G (p.Gln150=)
NM_015599.3(PGM3):c.520C>T (p.Arg174Ter) rs762678772
NM_015599.3(PGM3):c.521G>T (p.Arg174Leu) rs73749732
NM_015599.3(PGM3):c.566A>G (p.Lys189Arg) rs1251637218
NM_015599.3(PGM3):c.618A>C (p.Arg206Ser)
NM_015599.3(PGM3):c.715G>C (p.Asp239His) rs869312886
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_015599.3(PGM3):c.737dup (p.Asn246fs) rs587777564
NM_015599.3(PGM3):c.787+7C>T rs376979392
NM_015599.3(PGM3):c.847G>A (p.Val283Ile)
NM_015599.3(PGM3):c.891T>G (p.Asp297Glu) rs587777415
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510
Single allele

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