ClinVar Miner

List of variants in gene PGM3 reported as uncertain significance for PGM3-CDG

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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NM_015599.3(PGM3):c.-2-209C>A rs1438440008
NM_015599.3(PGM3):c.-2-226T>C rs373825865
NM_015599.3(PGM3):c.1135T>C (p.Phe379Leu)
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.1354C>A (p.Leu452Ile) rs201593125
NM_015599.3(PGM3):c.181G>T (p.Val61Leu)
NM_015599.3(PGM3):c.219A>G (p.Val73=) rs752657453
NM_015599.3(PGM3):c.325A>T (p.Ile109Phe) rs140499200
NM_015599.3(PGM3):c.389+3G>A rs201392846
NM_015599.3(PGM3):c.450A>G (p.Gln150=)
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.847G>A (p.Val283Ile)
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510

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