List of variants reported as uncertain significance for Gaucher disease due to saposin C deficiency by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_002778.4(PSAP):c.*574G>C	rs549402343	0.00010
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly)	rs200008050	0.00009
NM_002778.4(PSAP):c.*1008C>T	rs537171961	0.00006
NM_002778.4(PSAP):c.*276G>A	rs547409137	0.00006
NM_002778.4(PSAP):c.*596A>G	rs965039324	0.00005
NM_002778.4(PSAP):c.-22G>C	rs569841336	0.00005
NM_002778.4(PSAP):c.*346C>T	rs951110904	0.00004
NM_002778.4(PSAP):c.*787C>T	rs932052243	0.00003
NM_002778.4(PSAP):c.380G>A (p.Arg127His)	rs886047151	0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=)	rs199672678	0.00003
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu)	rs886047150	0.00003
NM_002778.4(PSAP):c.1197C>T (p.His399=)	rs748761213	0.00002
NM_002778.4(PSAP):c.40+12G>A	rs886047153	0.00002
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe)	rs1428436713	0.00002
NM_002778.4(PSAP):c.*238G>C	rs1174797357	0.00001
NM_002778.4(PSAP):c.*90C>T	rs1348415797	0.00001
NM_002778.4(PSAP):c.*935A>G	rs886047148	0.00001
NM_002778.4(PSAP):c.250-12G>A	rs886047152	0.00001
NM_002778.4(PSAP):c.*113C>T	rs544214520
NM_002778.4(PSAP):c.*526G>A	rs1842177081
NM_002778.4(PSAP):c.*73C>T	rs541692197
NM_002778.4(PSAP):c.*859C>T	rs886047149
NM_002778.4(PSAP):c.1329G>T (p.Leu443=)	rs1842249121
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala)	rs761637109
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg)	rs757553906

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