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

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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: 19

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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.1242+2T>G
NM_000453.3(SLC5A5):c.1340dup (p.Leu449fs)
NM_000453.3(SLC5A5):c.1459_1460del (p.Val488fs)
NM_000453.3(SLC5A5):c.1546C>T (p.Arg516Ter)
NM_000453.3(SLC5A5):c.1605_1618del (p.Thr536fs)
NM_000453.3(SLC5A5):c.1767+1G>C
NM_000453.3(SLC5A5):c.1768-1G>C
NM_000453.3(SLC5A5):c.176T>A (p.Val59Glu)
NM_000453.3(SLC5A5):c.357+1G>A
NM_000453.3(SLC5A5):c.371G>A (p.Arg124His)
NM_000453.3(SLC5A5):c.410_414del (p.Tyr137fs)
NM_000453.3(SLC5A5):c.679del (p.Ser227fs)
NM_000453.3(SLC5A5):c.699-2A>G
NM_000453.3(SLC5A5):c.794A>G (p.Gln265Arg)	rs2094311069
NM_000453.3(SLC5A5):c.969+1G>A
NM_000453.3(SLC5A5):c.970-7_980delinsA
NM_000453.3(SLC5A5):c.970-9_970dup

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