ClinVar Miner

List of variants reported as likely pathogenic for pseudohypoparathyroidism by 3billion

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.1039-1G>A rs2146304851
NM_000516.7(GNAS):c.415_418del (p.Asp139fs)
NM_000516.7(GNAS):c.585+1G>A

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