ClinVar Miner

List of variants studied for McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.988A>G (p.Ile330Val) rs201597085 0.00002
NM_080425.4(GNAS):c.1201G>A (p.Asp401Asn) rs752141160 0.00001
NM_080425.4(GNAS):c.1146C>T (p.Ala382=) rs1448481528
NM_080425.4(GNAS):c.1848C>T (p.Phe616=)
NM_080425.4(GNAS):c.1851G>A (p.Gly617=)
NM_080425.4(GNAS):c.334G>C (p.Gly112Arg)
NM_080425.4(GNAS):c.568G>C (p.Gly190Arg)

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