List of variants in gene SLC22A5 reported as benign for amino acid metabolism disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.*843T>C	rs274548	0.74357
NM_003060.4(SLC22A5):c.*1340A>T	rs274547	0.74351
NM_003060.4(SLC22A5):c.959_960insC	rs144261584	0.73243
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=)	rs2631365	0.42203
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=)	rs274558	0.39440
NM_003060.4(SLC22A5):c.652+77A>G	rs274559	0.39418
NM_003060.4(SLC22A5):c.824+13T>C	rs274557	0.39418
NM_003060.4(SLC22A5):c.*47C>T	rs1045020	0.09512
NM_003060.4(SLC22A5):c.394-296C>T	rs2073642	0.07739
NM_003060.4(SLC22A5):c.1052+101A>G	rs2073645	0.06948
NM_003060.4(SLC22A5):c.1268-34A>G	rs11568515	0.03088
NM_003060.4(SLC22A5):c.1587-38A>C	rs11568523	0.03088
NM_003060.4(SLC22A5):c.393+17G>A	rs11568522	0.02888
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser)	rs11568525	0.02345
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)	rs10040427	0.02340
NM_003060.4(SLC22A5):c.1451-16G>A	rs140988771	0.00371
NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val)	rs139775414	0.00365
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His)	rs144020613	0.00362
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	rs28383481	0.00347
NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=)	rs142355575	0.00335
NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile)	rs148233131	0.00335
NM_003060.4(SLC22A5):c.1434C>T (p.Pro478=)	rs140495935	0.00202
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)	rs75783492	0.00016
NM_003060.4(SLC22A5):c.1284T>A (p.Ala428=)	rs780429964	0.00007
NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=)	rs202219455	0.00001
NM_003060.4(SLC22A5):c.*92del	rs142209594
NM_003060.4(SLC22A5):c.1268-38del	rs11568517
NM_003060.4(SLC22A5):c.393+15dup
NM_003060.4(SLC22A5):c.652+6=	rs4551059
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=)	rs121908893

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