List of variants studied for familial hypoparathyroidism by Genome-Nilou Lab

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.2244G>C (p.Pro748=)	rs2036400	0.97432
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln)	rs1801726	0.91749
NM_000388.4(CASR):c.492+19G>A	rs9869985	0.91296
NM_000388.4(CASR):c.1609-89C>T	rs4678174	0.55250
NM_000315.4(PTH):c.-5-10G>A	rs694	0.50325
NM_000315.4(PTH):c.247C>A (p.Arg83=)	rs6256	0.12676
NM_000388.4(CASR):c.*60A>T	rs4677948

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