List of variants reported as uncertain significance for Hyperinsulinism-hyperammonemia syndrome by Illumina Laboratory Services, Illumina

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

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_005271.5(GLUD1):c.*1501G>C	rs768450394	0.00068
NM_005271.5(GLUD1):c.*1419T>G	rs895697576	0.00024
NM_005271.5(GLUD1):c.*970A>G	rs760207211	0.00022
NM_005271.5(GLUD1):c.1402+10G>A	rs202067232	0.00016
NM_005271.5(GLUD1):c.1403-11T>C	rs886047374	0.00015
NM_005271.5(GLUD1):c.*998C>T	rs766730554	0.00008
NM_005271.5(GLUD1):c.1279-6G>A	rs374548261	0.00006
NM_005271.5(GLUD1):c.1500A>G (p.Ala500=)	rs756259685	0.00006
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser)	rs373705613	0.00006
NM_005271.5(GLUD1):c.*1270C>T	rs886047370	0.00003
NM_005271.5(GLUD1):c.*1464C>T	rs886047368	0.00003
NM_005271.5(GLUD1):c.*1548C>T	rs886047366	0.00003
NM_005271.5(GLUD1):c.154C>A (p.His52Asn)	rs750420022	0.00002
NM_005271.5(GLUD1):c.330G>A (p.Lys110=)	rs199752396	0.00002
NM_005271.5(GLUD1):c.55C>T (p.Leu19=)	rs892387294	0.00002
NM_005271.5(GLUD1):c.*1181C>A	rs542298445	0.00001
NM_005271.5(GLUD1):c.*1436G>A	rs886047369	0.00001
NM_005271.5(GLUD1):c.*469C>A	rs566474794	0.00001
NM_005271.5(GLUD1):c.*496G>A	rs886047372	0.00001
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=)	rs774771496	0.00001
NM_005271.5(GLUD1):c.*1139T>C	rs1845608491
NM_005271.5(GLUD1):c.*1211T>C	rs1845605578
NM_005271.5(GLUD1):c.*1252T>C	rs886047371
NM_005271.5(GLUD1):c.*1515A>G	rs1845594094
NM_005271.5(GLUD1):c.*1545C>T	rs886047367
NM_005271.5(GLUD1):c.*205A>G	rs886047373
NM_005271.5(GLUD1):c.*64T>C	rs760101776
NM_005271.5(GLUD1):c.*64T>G	rs760101776
NM_005271.5(GLUD1):c.*868A>C	rs1430742705
NM_005271.5(GLUD1):c.-44C>T	rs886047379
NM_005271.5(GLUD1):c.1279-3T>C	rs1845868081
NM_005271.5(GLUD1):c.1557+12G>A	rs201872390
NM_005271.5(GLUD1):c.546T>C (p.Ala182=)	rs886047378
NM_005271.5(GLUD1):c.677T>G (p.Met226Arg)	rs886047377
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter)	rs886047375

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