List of variants reported as uncertain significance for Fucosidosis by Illumina Laboratory Services, Illumina

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

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)	rs150062050	0.00126
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=)	rs370453371	0.00047
NM_000147.4(FUCA1):c.-44G>A	rs139832548	0.00029
NM_000147.5(FUCA1):c.*270T>C	rs143441916	0.00020
NM_000147.5(FUCA1):c.405G>A (p.Thr135=)	rs145153173	0.00014
NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys)	rs201209052	0.00012
NM_000147.5(FUCA1):c.825A>T (p.Gly275=)	rs199675692	0.00010
NM_000147.5(FUCA1):c.936G>A (p.Leu312=)	rs140932886	0.00005
NM_000147.5(FUCA1):c.649G>A (p.Asp217Asn)	rs781345107	0.00004
NM_000147.5(FUCA1):c.*342C>A	rs1023386054	0.00003
NM_000147.5(FUCA1):c.*97T>C	rs1639121464	0.00003
NM_000147.5(FUCA1):c.1260+7A>C	rs771229488	0.00002
NM_000147.5(FUCA1):c.*527A>G	rs886046322	0.00001
NM_000147.5(FUCA1):c.1024A>G (p.Thr342Ala)	rs769788583	0.00001
NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg)	rs749269943	0.00001
NM_000147.5(FUCA1):c.30G>C (p.Pro10=)	rs886046326	0.00001
NM_000147.5(FUCA1):c.472G>A (p.Val158Met)	rs550936524	0.00001
NM_000147.5(FUCA1):c.*286C>A	rs886046324
NM_000147.5(FUCA1):c.438_442del	rs886046323
NM_000147.5(FUCA1):c.*544T>A	rs886046321
NM_000147.5(FUCA1):c.1076G>A (p.Gly359Glu)	rs1393793214
NM_000147.5(FUCA1):c.167C>G (p.Ala56Gly)	rs886046325
NM_000147.5(FUCA1):c.343T>C (p.Phe115Leu)	rs1639658693
NM_000147.5(FUCA1):c.389+15G>C	rs1395597191
NM_000147.5(FUCA1):c.420A>C (p.Glu140Asp)	rs1639606764
NM_000147.5(FUCA1):c.489T>C (p.Asp163=)	rs1639604269
NM_000147.5(FUCA1):c.4C>A (p.Arg2=)	rs2070955

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