List of variants reported as pathogenic for Hypercalcemia, infantile, 1

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Total variants: 14

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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.443T>C (p.Leu148Pro)	rs139763321	0.00014
NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys)	rs387907324	0.00004
NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter)	rs988715134	0.00002
GRCh37/hg19 20q13.2(chr20:52769985-52790525)
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys)	rs374292194
NM_000782.5(CYP24A1):c.1426_1427del (p.Cys477fs)	rs876657376
NM_000782.5(CYP24A1):c.364G>T (p.Glu122Ter)
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
NM_000782.5(CYP24A1):c.62del (p.Pro21fs)	rs774432244
NM_000782.5(CYP24A1):c.641-1G>A

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