List of variants in gene PGM3 studied for PGM3-CDG

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 35

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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.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

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