ClinVar Miner

List of variants studied for parathyroid gland disorder by CSER _CC_NCGL, University of Washington

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_003783.3(B3GALT2):c.367T>G (p.Tyr123Asp) rs41265203 0.00192
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_024529.5(CDC73):c.1066+8T>C rs80356647 0.00006
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu) rs199706698 0.00005

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