ClinVar Miner

List of variants studied for familial hypocalciuric hypercalcemia 2 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002067.5(GNA11):c.161C>T (p.Thr54Met) rs1335558363 0.00001
NM_002067.5(GNA11):c.404T>A (p.Leu135Gln) rs587777019
NM_002067.5(GNA11):c.595ATC[1] (p.Ile200del) rs672601249

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