ClinVar Miner

List of variants studied for Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Pseudohypoparathyroidism type I A by New York Genome Center

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser) rs746247739 0.00007
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_016592.5(GNAS):c.613G>A (p.Glu205Lys)
NM_080425.4(GNAS):c.1691A>C (p.Tyr564Ser)
NM_080425.4(GNAS):c.1798C>T (p.Arg600Cys)
NM_080425.4(GNAS):c.1999A>G (p.Lys667Glu)
NM_080425.4(GNAS):c.707A>G (p.Asp236Gly)
NM_080425.4(GNAS):c.748G>A (p.Asp250Asn)
NM_080425.4(GNAS):c.787G>A (p.Ala263Thr)

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