ClinVar Miner

List of variants in gene CASR reported as benign for Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1

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Total variants: 15
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HGVS dbSNP
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789
NM_000388.4(CASR):c.1733-9A>G rs190731787
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173
NM_000388.4(CASR):c.2244= (p.Pro748=) rs1553769059
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999
NM_000388.4(CASR):c.3031= (p.Glu1011=) rs1801726
NM_000388.4(CASR):c.537A>G (p.Gln179=) rs200129212
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_000388.4(CASR):c.906C>T (p.Ser302=) rs201067850
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343

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