ClinVar Miner

List of variants reported as pathogenic for Hyperparathyroidism 1 by Baylor Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_024529.5(CDC73):c.520_523del (p.Ser174fs)
NM_024529.5(CDC73):c.626_629del (p.Lys209fs)	rs2103126261
NM_024529.5(CDC73):c.685A>T (p.Arg229Ter)

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