ClinVar Miner

List of variants studied for parathyroid gland disorder by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.1422C>T (p.Pro474=) rs532475771 0.00008
NM_000383.4(AIRE):c.1504-818G>A rs181779633
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_001001433.3(STX16):c.393+557_792+364del

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