List of variants in gene SLC17A8 reported as benign for autosomal recessive 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_139319.3(SLC17A8):c.*39A>C	rs11568537	0.45975
NM_139319.3(SLC17A8):c.1187-45C>T	rs11568536	0.42236
NM_139319.3(SLC17A8):c.-218T>C	rs10860582	0.18033
NM_139319.3(SLC17A8):c.*71T>C	rs75599713	0.05167
NM_139319.3(SLC17A8):c.*817A>T	rs56156523	0.02065
NM_139319.3(SLC17A8):c.711G>A (p.Leu237=)	rs11568542	0.01720
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=)	rs11568528	0.00987
NM_139319.3(SLC17A8):c.355-4C>A	rs11568531	0.00670
NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile)	rs45610843	0.00512
NM_139319.3(SLC17A8):c.171G>A (p.Thr57=)	rs11110359	0.00452
NM_139319.3(SLC17A8):c.*1295T>C	rs139917587	0.00355
NM_139319.3(SLC17A8):c.*507G>A	rs73376066	0.00337
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=)	rs148882860	0.00261
NM_139319.3(SLC17A8):c.723G>A (p.Leu241=)	rs11568545	0.00019

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