ClinVar Miner

List of variants studied for pseudohypoparathyroidism by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.470_472del (p.Glu157del) rs2146209517
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.878A>G (p.Lys293Arg)
NM_080425.4(GNAS):c.1005G>T (p.Pro335=) rs536976542
NM_080425.4(GNAS):c.754_761del (p.Ser252fs) rs2086303843

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