ClinVar Miner

List of variants in gene CASR reported by Integrated Genetics/Laboratory Corporation of America

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_000388.3(CASR):c.1058A>C (p.Glu353Ala) rs193922419
NM_000388.3(CASR):c.106G>A (p.Gly36Arg) rs193922420
NM_000388.3(CASR):c.1244G>A (p.Arg415Gln) rs193922421
NM_000388.3(CASR):c.1333A>G (p.Thr445Ala) rs12493789
NM_000388.3(CASR):c.1512_1515delGTTT (p.Phe505Argfs) rs193922422
NM_000388.3(CASR):c.1525G>A (p.Gly509Arg) rs193922423
NM_000388.3(CASR):c.166delG (p.Glu56Serfs) rs193922424
NM_000388.3(CASR):c.1676C>A (p.Pro559His) rs193922425
NM_000388.3(CASR):c.1685G>C (p.Cys562Ser) rs193922426
NM_000388.3(CASR):c.1685_1686delGCinsCT (p.Cys562Ser) rs193922427
NM_000388.3(CASR):c.1686C>T (p.Cys562=) rs193922428
NM_000388.3(CASR):c.1884delC (p.Phe629Leufs) rs193922429
NM_000388.3(CASR):c.1934C>A (p.Ala645Asp) rs193922430
NM_000388.3(CASR):c.2014C>A (p.Pro672Thr) rs193922431
NM_000388.3(CASR):c.206G>A (p.Arg69His) rs193922432
NM_000388.3(CASR):c.2243C>A (p.Pro748His) rs193922433
NM_000388.3(CASR):c.2254C>T (p.Arg752Cys) rs193922434
NM_000388.3(CASR):c.2435T>C (p.Leu812Pro) rs193922435
NM_000388.3(CASR):c.2489G>A (p.Gly830Asp) rs193922436
NM_000388.3(CASR):c.2644A>T (p.Lys882Ter) rs193922437
NM_000388.3(CASR):c.2686delC (p.Arg896Alafs) rs193922438
NM_000388.3(CASR):c.269A>C (p.Asn90Thr) rs193922439
NM_000388.3(CASR):c.3063G>A (p.Thr1021=) rs193922440
NM_000388.3(CASR):c.3091G>A (p.Gly1031Ser) rs142704083
NM_000388.3(CASR):c.380A>G (p.Glu127Gly) rs121909260
NM_000388.3(CASR):c.492+19G>A rs9869985
NM_000388.3(CASR):c.496A>G (p.Ser166Gly) rs193922441
NM_000388.3(CASR):c.554delG (p.Arg185Glnfs) rs193922442
NM_000388.3(CASR):c.643G>C (p.Asp215His) rs1553731681
NM_000388.3(CASR):c.974G>A (p.Gly325Glu) rs193922444

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