List of variants reported as pathogenic for Neonatal severe primary hyperparathyroidism by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)	rs104893690
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)	rs104893705
NM_000388.4(CASR):c.2009G>A (p.Gly670Glu)	rs104893700
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs)	rs869320729
NM_000388.4(CASR):c.280G>T (p.Gly94Ter)	rs104893709
NM_000388.4(CASR):c.553C>T (p.Arg185Ter)	rs104893707
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	rs104893689
NM_000388.4(CASR):c.680G>T (p.Arg227Leu)	rs28936684
NM_000388.4(CASR):c.889G>A (p.Glu297Lys)	rs121909259
NM_000388.4:c.2628_2629insAlu

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