ClinVar Miner

List of variants studied for parathyroid gland disorder by GeneReviews

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_024529.5(CDC73):c.1066+8T>C rs80356647 0.00006
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys) rs137854532
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.1418-17C>G rs11583414
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.5(CDC73):c.766_767del (p.Val256fs) rs80356650

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