ClinVar Miner

List of variants studied for parathyroid gland disorder by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_001370259.2(MEN1):c.1049+2T>C rs1555164946
NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp) rs1555164707
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter) rs794728650
NM_001370259.2(MEN1):c.784-9G>A rs794728625

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