List of variants in gene SPR reported as uncertain significance 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: 29

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HGVS	dbSNP	gnomAD frequency
NM_003124.5(SPR):c.*321G>C	rs527829365	0.00121
NM_003124.5(SPR):c.305-12T>C	rs192766290	0.00098
NM_003124.5(SPR):c.*108G>A	rs372751802	0.00054
NM_003124.5(SPR):c.*575G>A	rs550861892	0.00036
NM_003124.5(SPR):c.369C>T (p.Tyr123=)	rs146349901	0.00024
NM_003124.5(SPR):c.*410C>G	rs886056290	0.00022
NM_003124.5(SPR):c.*50C>T	rs760241473	0.00019
NM_003124.5(SPR):c.654G>A (p.Met218Ile)	rs150078285	0.00013
NM_003124.5(SPR):c.486A>G (p.Gln162=)	rs139708286	0.00012
NM_003124.5(SPR):c.706G>A (p.Val236Met)	rs371904378	0.00007
NM_003124.5(SPR):c.*400C>T	rs886056289	0.00006
NM_003124.5(SPR):c.328G>C (p.Gly110Arg)	rs201651366	0.00006
NM_003124.5(SPR):c.536T>C (p.Met179Thr)	rs780440681	0.00005
NM_003124.5(SPR):c.380A>G (p.Asn127Ser)	rs755878397	0.00002
NM_003124.5(SPR):c.*607A>C	rs1176601691	0.00001
NM_003124.5(SPR):c.610G>C (p.Asp204His)	rs1430511579	0.00001
NM_003124.5(SPR):c.*233G>A	rs1670625602
NM_003124.5(SPR):c.*377G>A	rs912605707
NM_003124.5(SPR):c.*597C>A	rs886056291
NM_003124.5(SPR):c.291_293del (p.Ile98del)	rs1559048107
NM_003124.5(SPR):c.307T>C (p.Ser103Pro)
NM_003124.5(SPR):c.308C>G (p.Ser103Cys)	rs748740519
NM_003124.5(SPR):c.370T>C (p.Trp124Arg)
NM_003124.5(SPR):c.477T>C (p.Cys159=)	rs1670575187
NM_003124.5(SPR):c.497G>A (p.Gly166Asp)	rs1404932614
NM_003124.5(SPR):c.556C>G (p.Leu186Val)	rs1670577308
NM_003124.5(SPR):c.595+7G>A	rs1670578079
NM_003124.5(SPR):c.596-4C>G	rs775183662
NM_003124.5(SPR):c.616C>T (p.Gln206Ter)

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