List of variants in gene SLC17A5 reported as uncertain significance by Counsyl

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)	rs1234745577	0.00001
NM_012434.5(SLC17A5):c.1327dup (p.Ile443fs)	rs1554160766
NM_012434.5(SLC17A5):c.1351-2A>G	rs1554160244
NM_012434.5(SLC17A5):c.1367G>A (p.Trp456Ter)	rs1554160239
NM_012434.5(SLC17A5):c.1417_1427del (p.Phe473fs)	rs1554160223
NM_012434.5(SLC17A5):c.1479_1480del (p.His493fs)	rs1554160206
NM_012434.5(SLC17A5):c.1479dup (p.Arg494fs)	rs1554160209
NM_012434.5(SLC17A5):c.776C>T (p.Ser259Phe)	rs149340734
NM_012434.5(SLC17A5):c.837_842dup (p.Val280_Pro281dup)	rs1554162837

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