List of variants reported as uncertain significance for Glycogen storage disease IXc by Illumina Laboratory Services, Illumina

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

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_000294.3(PHKG2):c.324C>T (p.Asp108=)	rs138416154	0.00252
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=)	rs61731628	0.00240
NM_000294.3(PHKG2):c.288C>T (p.Ser96=)	rs56029513	0.00158
NM_000294.3(PHKG2):c.393G>A (p.Arg131=)	rs55751949	0.00153
NM_000294.3(PHKG2):c.-28G>T	rs556945561	0.00070
NM_000294.3(PHKG2):c.585G>A (p.Ala195=)	rs187710792	0.00038
NM_000294.3(PHKG2):c.21G>A (p.Pro7=)	rs200427925	0.00032
NM_000294.3(PHKG2):c.*22C>T	rs372172604	0.00031
NM_000294.3(PHKG2):c.360A>G (p.Thr120=)	rs149163610	0.00024
NM_000294.3(PHKG2):c.921G>T (p.Arg307=)	rs201113602	0.00018
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln)	rs538127151	0.00017
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn)	rs151033581	0.00012
NM_000294.3(PHKG2):c.318G>T (p.Val106=)	rs199743139	0.00006
NM_000294.3(PHKG2):c.556+5G>T	rs369684098	0.00005
NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser)	rs373915359	0.00004
NM_000294.3(PHKG2):c.*47G>A	rs767591090	0.00003
NM_000294.3(PHKG2):c.-3A>G	rs1049581523	0.00002
NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp)	rs746361026	0.00002
NM_000294.2(PHKG2):c.-106G>A	rs879382458	0.00001
NM_000294.3(PHKG2):c.608T>C (p.Met203Thr)	rs192866993	0.00001
NM_000294.3(PHKG2):c.95+11G>A	rs886051910	0.00001
NM_000294.2(PHKG2):c.-118G>A	rs1361898035
NM_000294.2(PHKG2):c.-162C>T	rs938838075
NM_000294.3(PHKG2):c.-76G>C	rs2053281054
NM_000294.3(PHKG2):c.1077G>A (p.Gly359=)	rs747926397
NM_000294.3(PHKG2):c.1180G>A (p.Ala394Thr)	rs886051914
NM_000294.3(PHKG2):c.271+14C>T	rs572169140
NM_000294.3(PHKG2):c.448G>A (p.Val150Met)	rs886051911
NM_000294.3(PHKG2):c.556+11C>G	rs2053379816
NM_000294.3(PHKG2):c.928-9C>G	rs886051913
NM_000294.3(PHKG2):c.96-7C>G	rs898984695

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