ClinVar Miner

List of variants in gene CASR reported as likely benign for Familial hypocalciuric hypercalcemia

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Total variants: 22
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HGVS dbSNP
NM_000388.3(CASR):c.*87C>T rs202045621
NM_000388.3(CASR):c.-111C>A rs201098532
NM_000388.3(CASR):c.-379delC rs537119483
NM_000388.3(CASR):c.1008G>C (p.Lys336Asn) rs548403340
NM_000388.3(CASR):c.1285C>T (p.His429Tyr) rs142818334
NM_000388.3(CASR):c.1333A>G (p.Thr445Ala) rs12493789
NM_000388.3(CASR):c.1631G>A (p.Arg544Gln) rs115230894
NM_000388.3(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.3(CASR):c.1686C>T (p.Cys562=) rs193922428
NM_000388.3(CASR):c.1752G>A (p.Lys584=) rs138638329
NM_000388.3(CASR):c.1775A>G (p.Asn592Ser) rs117375173
NM_000388.3(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.3(CASR):c.2824G>A (p.Glu942Lys) rs76327999
NM_000388.3(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.3(CASR):c.3063G>A (p.Thr1021=) rs193922440
NM_000388.3(CASR):c.573G>A (p.Glu191=) rs141631116
NM_000388.3(CASR):c.6A>C (p.Ala2=) rs112042188
NM_000388.3(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000388.3(CASR):c.762T>C (p.His254=) rs76438850
NM_000388.3(CASR):c.915C>A (p.Ile305=) rs200528343
NM_000388.3(CASR):c.930C>T (p.Tyr310=) rs201737357
NM_001178065.1(CASR):c.1763-9A>G rs190731787

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