List of variants reported as likely pathogenic for disorder of glycogen metabolism by Revvity Omics, Revvity

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		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)	rs10250779	0.00166
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)	rs193186112	0.00014
NM_005609.4(PYGM):c.425-26A>G	rs764313717	0.00009
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)	rs150547274	0.00005
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)	rs1005687078	0.00003
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)	rs761438921	0.00002
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)	rs104894568	0.00001
NM_000289.6(PFKM):c.1500+1G>A	rs770066278	0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	rs763554006	0.00001
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)	rs1394188143	0.00001
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs)	rs730880330	0.00001
NM_000151.4(G6PC1):c.230+1G>C	rs863224023
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)	rs80356482
NM_000289.6(PFKM):c.238-3A>G
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln)	rs1601781024
NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs)	rs2147799052
NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu)	rs137852295
NM_000293.3(PHKB):c.2273del (p.Lys758fs)	rs2151737344
NM_000340.2(SLC2A2):c.1356dup (p.Cys453fs)	rs1350704340
NM_000642.3(AGL):c.1113dup (p.Asn372Ter)
NM_000642.3(AGL):c.3299del (p.Gly1100fs)
NM_000642.3(AGL):c.3772_3776del (p.Thr1258fs)	rs2100849229
NM_000642.3(AGL):c.3787del (p.Met1263fs)
NM_002103.5(GYS1):c.1A>C (p.Met1Leu)	rs748334413
NM_002863.5(PYGL):c.361G>T (p.Glu121Ter)
NM_005609.4(PYGM):c.1239+1G>T	rs759657964
NM_005609.4(PYGM):c.1507del (p.Val503fs)	rs1272600960
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)	rs397514631
NM_005609.4(PYGM):c.1620+1G>A	rs1256894448
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)	rs527236147
NM_005609.4(PYGM):c.254_257del (p.Tyr85fs)	rs2135840945
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)	rs187930476
NM_021957.4(GYS2):c.1753C>T (p.Gln585Ter)
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)	rs150382575

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