List of variants studied for Hypercalcemia, infantile, 1 by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)	rs6068812	0.00084
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)	rs114368325	0.00079
NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys)	rs387907324	0.00004
NM_000782.5(CYP24A1):c.1426_1427del (p.Cys477fs)	rs876657376
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del)	rs777676129
NM_000782.5(CYP24A1):c.451G>T (p.Glu151Ter)	rs387907323
NM_000782.5(CYP24A1):c.476G>A (p.Arg159Gln)	rs387907322

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