ClinVar Miner

List of variants reported as likely benign for Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypocalcemia 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_002067.5(GNA11):c.705C>T (p.Tyr235=) rs138168314 0.00091
NM_002067.5(GNA11):c.570C>T (p.Ile190=) rs201668624 0.00014
NM_002067.5(GNA11):c.501C>T (p.Ile167=) rs756722832 0.00012
NM_002067.5(GNA11):c.476+13G>A rs371755659 0.00011
NM_002067.5(GNA11):c.240C>T (p.Tyr80=) rs145033220 0.00009
NM_002067.5(GNA11):c.889+14C>T rs369371015 0.00008
NM_002067.5(GNA11):c.489C>T (p.Asp163=) rs141926949 0.00007
NM_002067.5(GNA11):c.322-5C>T rs773020890 0.00005
NM_002067.5(GNA11):c.912G>A (p.Ala304=) rs145170690 0.00004
NM_002067.5(GNA11):c.915G>A (p.Ala305=) rs750757769 0.00004
NM_002067.5(GNA11):c.462C>T (p.Ser154=) rs200449144 0.00003
NM_002067.5(GNA11):c.889+7C>T rs201814380 0.00003
NM_002067.5(GNA11):c.477-12G>A rs766787225 0.00001
NM_002067.5(GNA11):c.606-6T>C rs371052478 0.00001
NM_002067.5(GNA11):c.987G>A (p.Thr329=) rs375856122 0.00001
NM_002067.5(GNA11):c.322-10G>A rs368874580

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