List of variants reported as pathogenic for Hypercalcemia, infantile, 2 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003052.5(SLC34A1):c.644+1G>A	rs201304511	0.00004
NM_003052.5(SLC34A1):c.1006+1G>A	rs200095793	0.00001
NM_003052.5(SLC34A1):c.1006T>G (p.Cys336Gly)	rs876661338
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)	rs876661296
NM_003052.5(SLC34A1):c.458G>C (p.Gly153Ala)	rs769409705
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val)	rs769409705

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