ClinVar Miner

List of variants in gene CASR reported as likely pathogenic

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Gene type:
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Total variants: 45
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HGVS dbSNP
NM_000388.4(CASR):c.1058A>C (p.Glu353Ala) rs193922419
NM_000388.4(CASR):c.1183T>C (p.Cys395Arg) rs1057517712
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln) rs193922421
NM_000388.4(CASR):c.1512_1515del (p.Phe505fs) rs193922422
NM_000388.4(CASR):c.166del (p.Glu56fs) rs193922424
NM_000388.4(CASR):c.1673A>G (p.Glu558Gly) rs1553768726
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.1750A>T (p.Lys584Ter) rs1057523748
NM_000388.4(CASR):c.1837G>A (p.Gly613Arg) rs1060502842
NM_000388.4(CASR):c.1884del (p.Phe629fs) rs193922429
NM_000388.4(CASR):c.1934C>A (p.Ala645Asp) rs193922430
NM_000388.4(CASR):c.196C>T (p.Arg66Cys) rs121909266
NM_000388.4(CASR):c.197G>A (p.Arg66His)
NM_000388.4(CASR):c.2014C>A (p.Pro672Thr) rs193922431
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys) rs767363250
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432
NM_000388.4(CASR):c.2165del (p.Asn722fs) rs1559968729
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln) rs193922433
NM_000388.4(CASR):c.2244delinsCC (p.Ser749fs) rs1553769059
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) rs121909258
NM_000388.4(CASR):c.2431A>G (p.Met811Val) rs1057521129
NM_000388.4(CASR):c.2435T>C (p.Leu812Pro) rs193922435
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000388.4(CASR):c.2482A>C (p.Thr828Pro) rs794729230
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp) rs193922436
NM_000388.4(CASR):c.2644A>T (p.Lys882Ter) rs193922437
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) rs1057520791
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) rs193922439
NM_000388.4(CASR):c.380A>G (p.Glu127Gly) rs121909260
NM_000388.4(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) rs121909264
NM_000388.4(CASR):c.493-2A>G
NM_000388.4(CASR):c.532A>G (p.Asn178Asp) rs1060502855
NM_000388.4(CASR):c.554del (p.Arg185fs) rs193922442
NM_000388.4(CASR):c.643G>C (p.Asp215His) rs1553731681
NM_000388.4(CASR):c.649G>T (p.Asp217Tyr) rs201091657
NM_000388.4(CASR):c.659G>A (p.Arg220Gln) rs1202110240
NM_000388.4(CASR):c.679C>G (p.Arg227Gly) rs1085307984
NM_000388.4(CASR):c.707G>T (p.Cys236Phe) rs1057518616
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414
NM_000388.4(CASR):c.823_824del (p.Asp275fs) rs1553766794
NM_000388.4(CASR):c.974G>A (p.Gly325Glu) rs193922444

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