ClinVar Miner

List of variants studied for Hyperparathyroidism 1 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.1350+1G>A rs863223311
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro) rs121434264
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) rs80356649

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