ClinVar Miner

List of variants in gene CASR reported as uncertain significance for Neonatal severe hyperparathyroidism

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Total variants: 15
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HGVS dbSNP
NM_000388.4(CASR):c.*103A>C rs199899073
NM_000388.4(CASR):c.*1169C>T rs200652347
NM_000388.4(CASR):c.*1193C>T rs886057835
NM_000388.4(CASR):c.*1197C>G rs886057836
NM_000388.4(CASR):c.*1201C>T rs886057837
NM_000388.4(CASR):c.*625G>A rs886057833
NM_000388.4(CASR):c.*640G>T rs201855028
NM_000388.4(CASR):c.*790T>C rs886057834
NM_000388.4(CASR):c.*923T>C rs201230484
NM_000388.4(CASR):c.-137C>A rs201074178
NM_000388.4(CASR):c.-154T>A rs186365367
NM_000388.4(CASR):c.1923C>T (p.Pro641=) rs368093724
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) rs371038712
NM_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831

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