ClinVar Miner

List of variants reported as pathogenic for Pendred syndrome by Genetics and Molecular Pathology, SA Pathology

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)	rs111033309	0.00009
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)	rs747076316	0.00002

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