ClinVar Miner

List of variants studied for familial primary hyperparathyroidism by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_000388.4(CASR):c.205C>A (p.Arg69Ser)
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.445+1G>T
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp) rs537546612
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu) rs1675465120

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