List of variants in gene SLC5A5 reported as pathogenic for thyroid gland disorder

Minimum submission review status:		Collection method:
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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu)	rs121909176	0.00003
NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg)	rs121909180	0.00002
NM_000453.3(SLC5A5):c.1060A>C (p.Thr354Pro)	rs121909174	0.00001
NM_000453.3(SLC5A5):c.816C>A (p.Cys272Ter)	rs121909175	0.00001
NG_012930.1:g.7540_13728delins431
NM_000453.3(SLC5A5):c.1261G>A (p.Gly421Arg)	rs2094326271
NM_000453.3(SLC5A5):c.152del (p.Gly51fs)	rs2094296642
NM_000453.3(SLC5A5):c.1546C>T (p.Arg516Ter)
NM_000453.3(SLC5A5):c.1593C>G (p.Tyr531Ter)	rs121909177
NM_000453.3(SLC5A5):c.1628G>A (p.Gly543Glu)	rs121909179
NM_000453.3(SLC5A5):c.277G>C (p.Gly93Arg)	rs121909178

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