ClinVar Miner

List of variants reported as benign for Neonatal severe primary hyperparathyroidism by Genome-Nilou Lab

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.2244G>C (p.Pro748=) rs2036400 0.97432
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_000388.4(CASR):c.492+19G>A rs9869985 0.91296
NM_000388.4(CASR):c.1609-89C>T rs4678174 0.55250
NM_000388.4(CASR):c.*60A>T rs4677948

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