ClinVar Miner

List of variants studied for Hypercalcemia, infantile, 2 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003052.5(SLC34A1):c.1006+1G>A	rs200095793	0.00003
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val)	rs769409705
NM_003052.5(SLC34A1):c.532+2T>C	rs1762582225
NM_003052.5(SLC34A1):c.608C>A (p.Ala203Asp)	rs751877533

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