List of variants reported as pathogenic for glycogen storage disease III by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)	rs113994130	0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)	rs267606640	0.00006
NM_000642.3(AGL):c.4260-12A>G	rs369973784	0.00006
NM_000642.3(AGL):c.3965del (p.Val1322fs)	rs113994132	0.00004
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)	rs113994126	0.00003
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter)	rs771853367	0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)	rs387906244	0.00003
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	rs781580050	0.00001
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)	rs113994128	0.00001
NM_000642.3(AGL):c.1571G>A (p.Arg524His)	rs758182700	0.00001
NM_000642.3(AGL):c.1735+1G>T	rs199922945	0.00001
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter)	rs765367405	0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)	rs1057516870	0.00001
NM_000642.3(AGL):c.22del (p.Arg8fs)	rs1215043175	0.00001
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter)	rs773095419	0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)	rs531425980	0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)	rs113994131	0.00001
NM_000642.3(AGL):c.595C>T (p.Gln199Ter)	rs780694207	0.00001
NM_000642.3(AGL):c.664+3A>G	rs370792293	0.00001
NM_000642.3(AGL):c.853C>T (p.Arg285Ter)	rs755747010	0.00001
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)	rs786204678
NM_000642.3(AGL):c.18_19del (p.Gln6fs)	rs113994127
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)	rs771069887
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)	rs867341758
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)	rs745757264
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter)	rs1344484845
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)	rs786204655
NM_000642.3(AGL):c.4456del (p.Ser1486fs)	rs113994134
NM_000642.3(AGL):c.753_756del (p.Asp251fs)	rs748789700

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