ClinVar Miner

List of variants studied for hyperparathyroidism by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.1119del (p.Asn374fs)
NM_001370259.2(MEN1):c.584_586del (p.Glu195del) rs2136151782
NM_004752.4(GCM2):c.1166T>C (p.Val389Ala)
NM_004752.4(GCM2):c.523A>T (p.Ile175Phe)

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