List of variants reported as likely pathogenic for Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)	rs140022350	0.00001
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)	rs1057518933
NM_000388.4(CASR):c.2506G>T (p.Val836Leu)	rs2107650629
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)	rs2074565202
NM_000388.4(CASR):c.413C>T (p.Thr138Met)	rs121909263
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)	rs2074624616

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