List of variants in gene SPR reported as pathogenic for amino acid metabolism disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_003124.5(SPR):c.448A>G (p.Arg150Gly)	rs104893665	0.00006
NM_003124.5(SPR):c.751A>T (p.Lys251Ter)	rs121917747	0.00006
NM_003124.5(SPR):c.596-2A>G	rs398122922	0.00001
NM_003124.5(SPR):c.655C>T (p.Arg219Ter)	rs779204655	0.00001
NM_003124.4(SPR):c.596del	rs1553498582
NM_003124.5(SPR):c.304+2_304+13del	rs1670562900
NM_003124.5(SPR):c.304G>T (p.Gly102Cys)	rs387907200
NM_003124.5(SPR):c.355C>T (p.Gln119Ter)	rs121917746
NM_003124.5(SPR):c.448_452del (p.Thr151fs)	rs587776777
NM_003124.5(SPR):c.488C>T (p.Pro163Leu)	rs104893666
NM_003124.5(SPR):c.544C>T (p.Gln182Ter)	rs2105241166

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