List of variants in gene SLC17A5 reported as benign for carbohydrate 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_012434.5(SLC17A5):c.979-87A>G	rs628038	0.43140
NM_012434.5(SLC17A5):c.*971G>A	rs670248	0.38715
NM_012434.5(SLC17A5):c.1112-36G>A	rs4708065	0.32463
NM_012434.5(SLC17A5):c.*385C>G	rs3734518	0.26106
NM_012434.5(SLC17A5):c.526-106G>T	rs3757111	0.22477
NM_012434.5(SLC17A5):c.819+52G>A	rs520589	0.16798
NM_012434.5(SLC17A5):c.819+79T>G	rs558839	0.16769
NM_012434.5(SLC17A5):c.820-51C>G	rs611580	0.16614
NM_012434.5(SLC17A5):c.978+70G>A	rs610260	0.16613
NM_012434.5(SLC17A5):c.978+88C>T	rs474661	0.16611
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=)	rs472294	0.10691
NM_012434.5(SLC17A5):c.979-33G>A	rs12199937	0.05489
NM_012434.5(SLC17A5):c.*193A>G	rs3734517	0.05453
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=)	rs3757112	0.05389
NM_012434.5(SLC17A5):c.1111+7G>A	rs146729568	0.01982
NM_012434.5(SLC17A5):c.*909C>T	rs142349844	0.01560
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile)	rs16883930	0.01342
NM_012434.5(SLC17A5):c.820-3C>T	rs12201641	0.00436
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val)	rs34348416	0.00257
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)	rs74360232	0.00215
NM_012434.5(SLC17A5):c.1112-18A>G	rs751782561	0.00049
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)	rs147732875	0.00041
NM_012434.5(SLC17A5):c.*764G>A	rs139964473
NM_012434.5(SLC17A5):c.1351-15del	rs1341837566
NM_012434.5(SLC17A5):c.1351-15dup
NM_012434.5(SLC17A5):c.291+16dup
NM_012434.5(SLC17A5):c.525+36G>C	rs12192476
NM_012434.5(SLC17A5):c.95-19del
NM_012434.5(SLC17A5):c.978+11dup	rs2150099214

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