ClinVar Miner

List of variants in gene CASR studied for Familial hypocalciuric hypercalcemia

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Total variants: 69
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HGVS dbSNP
NM_000388.3(CASR):c.-379delC rs537119483
NM_000388.4(CASR):c.*1015A>G rs9740
NM_000388.4(CASR):c.*103A>C rs199899073
NM_000388.4(CASR):c.*1093C>T rs1802757
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.*1198T>C rs10190
NM_000388.4(CASR):c.*1201C>T rs886057837
NM_000388.4(CASR):c.*1235A>G rs34042920
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*574C>G rs6438718
NM_000388.4(CASR):c.*60A>T rs4677948
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.*87C>T rs202045621
NM_000388.4(CASR):c.*923T>C rs201230484
NM_000388.4(CASR):c.-111C>A rs201098532
NM_000388.4(CASR):c.-137C>A rs201074178
NM_000388.4(CASR):c.-154T>A rs186365367
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn) rs548403340
NM_000388.4(CASR):c.1058A>C (p.Glu353Ala) rs193922419
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln) rs193922421
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.1512_1515del (p.Phe505fs) rs193922422
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg) rs193922423
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.166del (p.Glu56fs) rs193922424
NM_000388.4(CASR):c.1676C>A (p.Pro559His) rs193922425
NM_000388.4(CASR):c.1685G>C (p.Cys562Ser) rs193922426
NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser) rs193922427
NM_000388.4(CASR):c.1686C>T (p.Cys562=) rs193922428
NM_000388.4(CASR):c.1733-9A>G rs190731787
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173
NM_000388.4(CASR):c.1884del (p.Phe629fs) rs193922429
NM_000388.4(CASR):c.1923C>T (p.Pro641=) rs368093724
NM_000388.4(CASR):c.2014C>A (p.Pro672Thr) rs193922431
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln) rs193922433
NM_000388.4(CASR):c.2435T>C (p.Leu812Pro) rs193922435
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp) rs193922436
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711
NM_000388.4(CASR):c.2644A>T (p.Lys882Ter) rs193922437
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) rs193922439
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) rs371038712
NM_000388.4(CASR):c.3063G>A (p.Thr1021=) rs193922440
NM_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831
NM_000388.4(CASR):c.380A>G (p.Glu127Gly) rs121909260
NM_000388.4(CASR):c.492+19G>A rs9869985
NM_000388.4(CASR):c.554del (p.Arg185fs) rs193922442
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116
NM_000388.4(CASR):c.643G>C (p.Asp215His) rs1553731681
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000388.4(CASR):c.762T>C (p.His254=) rs76438850
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357
NM_000388.4(CASR):c.974G>A (p.Gly325Glu) rs193922444

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