ClinVar Miner

List of variants studied for parathyroid gland disorder by GenomeConnect, ClinGen

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp) rs794728620

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