ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP
NM_000388.4(CASR):c.1018A>G (p.Arg340Gly) rs1060502853
NM_000388.4(CASR):c.1027G>A (p.Val343Ile)
NM_000388.4(CASR):c.1075C>T (p.His359Tyr) rs1559959592
NM_000388.4(CASR):c.107G>T (p.Gly36Val) rs1559955372
NM_000388.4(CASR):c.1087G>A (p.Gly363Ser) rs757475954
NM_000388.4(CASR):c.10T>C (p.Tyr4His) rs1559955224
NM_000388.4(CASR):c.1110G>A (p.Val370=) rs150412204
NM_000388.4(CASR):c.1124G>A (p.Arg375Lys) rs760190284
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg)
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser)
NM_000388.4(CASR):c.1154G>A (p.Ser385Asn) rs1553766867
NM_000388.4(CASR):c.1175G>A (p.Arg392Gln) rs1287075426
NM_000388.4(CASR):c.1175G>T (p.Arg392Leu) rs1287075426
NM_000388.4(CASR):c.1180C>G (p.Leu394Val) rs1559959773
NM_000388.4(CASR):c.11A>G (p.Tyr4Cys) rs1171102282
NM_000388.4(CASR):c.1206C>G (p.Ser402Arg)
NM_000388.4(CASR):c.1238A>T (p.His413Leu) rs1553766896
NM_000388.4(CASR):c.125T>C (p.Phe42Ser) rs1553765909
NM_000388.4(CASR):c.1280T>C (p.Ile427Thr) rs1553766906
NM_000388.4(CASR):c.1287C>A (p.His429Gln) rs746515147
NM_000388.4(CASR):c.1297G>C (p.Asp433His) rs199511990
NM_000388.4(CASR):c.1304A>T (p.Tyr435Phe) rs1553766913
NM_000388.4(CASR):c.1337A>G (p.Asn446Ser) rs1553766925
NM_000388.4(CASR):c.134C>A (p.Ala45Glu) rs779995504
NM_000388.4(CASR):c.1370C>T (p.Ala457Val) rs1553766930
NM_000388.4(CASR):c.1382T>A (p.Leu461Gln) rs1553768082
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.1412A>T (p.Asn471Ile)
NM_000388.4(CASR):c.1419G>A (p.Met473Ile) rs1559965073
NM_000388.4(CASR):c.1444T>A (p.Cys482Ser) rs774174934
NM_000388.4(CASR):c.145C>G (p.Gln49Glu) rs1553765913
NM_000388.4(CASR):c.1460G>A (p.Gly487Glu) rs1206946808
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys) rs1553768108
NM_000388.4(CASR):c.1500T>A (p.Asp500Glu) rs200240922
NM_000388.4(CASR):c.1526G>A (p.Gly509Glu) rs1060502845
NM_000388.4(CASR):c.155A>G (p.Lys52Arg) rs1553765922
NM_000388.4(CASR):c.1581A>T (p.Lys527Asn) rs1553768128
NM_000388.4(CASR):c.1608+4G>T rs878853974
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser) rs201202700
NM_000388.4(CASR):c.1647G>T (p.Gly549=) rs1553768722
NM_000388.4(CASR):c.1694G>A (p.Cys565Tyr) rs1553768736
NM_000388.4(CASR):c.16T>G (p.Cys6Gly) rs1559955229
NM_000388.4(CASR):c.1702T>G (p.Cys568Gly) rs1060502851
NM_000388.4(CASR):c.1732+1_1732+10delinsTG rs1064792970
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) rs104893690
NM_000388.4(CASR):c.179G>T (p.Cys60Phe)
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu) rs1052956823
NM_000388.4(CASR):c.1837G>C (p.Gly613Arg) rs1060502842
NM_000388.4(CASR):c.1888G>C (p.Val630Leu) rs1559968392
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys) rs1185593894
NM_000388.4(CASR):c.1948C>T (p.Leu650Phe) rs1553768963
NM_000388.4(CASR):c.1957C>T (p.Leu653Phe) rs1553768964
NM_000388.4(CASR):c.1960C>T (p.Leu654Phe) rs1553768966
NM_000388.4(CASR):c.2012A>T (p.Glu671Val) rs199957040
NM_000388.4(CASR):c.2036T>G (p.Leu679Arg) rs1553768983
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939
NM_000388.4(CASR):c.2056A>G (p.Ile686Val) rs753013993
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432
NM_000388.4(CASR):c.2083_2106dup (p.Ile695_Val702dup) rs1553769002
NM_000388.4(CASR):c.2105T>C (p.Val702Ala) rs1559968643
NM_000388.4(CASR):c.2134A>G (p.Thr712Ala) rs1060502844
NM_000388.4(CASR):c.2147G>C (p.Arg716Pro) rs201670662
NM_000388.4(CASR):c.2209G>A (p.Val737Ile)
NM_000388.4(CASR):c.220A>C (p.Met74Leu) rs745377913
NM_000388.4(CASR):c.2230T>C (p.Tyr744His) rs1328499732
NM_000388.4(CASR):c.2236G>A (p.Ala746Thr) rs562364178
NM_000388.4(CASR):c.2254C>A (p.Arg752Ser) rs193922434
NM_000388.4(CASR):c.2254C>T (p.Arg752Cys) rs193922434
NM_000388.4(CASR):c.2261A>C (p.Gln754Pro) rs777361297
NM_000388.4(CASR):c.2325C>G (p.Phe775Leu)
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350
NM_000388.4(CASR):c.250A>C (p.Ser84Arg) rs1559956545
NM_000388.4(CASR):c.2597G>C (p.Arg866Pro) rs387907401
NM_000388.4(CASR):c.2597_2598delinsTT (p.Arg866Leu) rs1553769144
NM_000388.4(CASR):c.2635C>G (p.His879Asp) rs1553769153
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu) rs104893704
NM_000388.4(CASR):c.2645A>G (p.Lys882Arg) rs1553769162
NM_000388.4(CASR):c.2672G>A (p.Arg891His) rs533567836
NM_000388.4(CASR):c.2680G>A (p.Val894Ile) rs200883282
NM_000388.4(CASR):c.2684C>G (p.Ser895Cys) rs1553769171
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln) rs121909269
NM_000388.4(CASR):c.2714C>T (p.Ser905Phe) rs1559969541
NM_000388.4(CASR):c.2717C>T (p.Thr906Met)
NM_000388.4(CASR):c.2725A>G (p.Thr909Ala) rs1559969557
NM_000388.4(CASR):c.2791A>C (p.Lys931Gln) rs746005172
NM_000388.4(CASR):c.284A>G (p.Tyr95Cys) rs1060502850
NM_000388.4(CASR):c.2851C>A (p.Pro951Thr) rs4987051
NM_000388.4(CASR):c.2864G>A (p.Arg955Gln) rs866599196
NM_000388.4(CASR):c.2866T>G (p.Ser956Ala) rs1559969778
NM_000388.4(CASR):c.2878C>T (p.Pro960Ser) rs1352202616
NM_000388.4(CASR):c.2889G>C (p.Lys963Asn) rs1060502859
NM_000388.4(CASR):c.2921C>T (p.Thr974Ile)
NM_000388.4(CASR):c.294T>G (p.Phe98Leu) rs878853976
NM_000388.4(CASR):c.2951A>G (p.Lys984Arg) rs1553769261
NM_000388.4(CASR):c.2971A>C (p.Asn991His) rs1553769276
NM_000388.4(CASR):c.2978C>T (p.Thr993Met) rs758227966
NM_000388.4(CASR):c.2980C>T (p.His994Tyr) rs1559969980
NM_000388.4(CASR):c.2985G>C (p.Gln995His) rs201341173
NM_000388.4(CASR):c.2996A>C (p.Glu999Ala) rs201052958
NM_000388.4(CASR):c.3002A>C (p.Gln1001Pro) rs1176923284
NM_000388.4(CASR):c.3010A>C (p.Ser1004Arg) rs780255825
NM_000388.4(CASR):c.3013G>C (p.Asp1005His) rs201990892
NM_000388.4(CASR):c.3034C>A (p.Pro1012Thr) rs763977493
NM_000388.4(CASR):c.3058G>C (p.Glu1020Gln) rs1060502858
NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp) rs193921082
NM_000388.4(CASR):c.3122G>A (p.Arg1041Gln)
NM_000388.4(CASR):c.3138C>A (p.Asp1046Glu) rs878853977
NM_000388.4(CASR):c.3169T>A (p.Ser1057Thr) rs1553769334
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp) rs775066593
NM_000388.4(CASR):c.323T>C (p.Leu108Ser) rs1553766242
NM_000388.4(CASR):c.341T>C (p.Phe114Ser) rs1553766245
NM_000388.4(CASR):c.365C>A (p.Ser122Tyr) rs778201006
NM_000388.4(CASR):c.416T>C (p.Ile139Thr) rs1060502860
NM_000388.4(CASR):c.41C>T (p.Thr14Ile) rs1235999733
NM_000388.4(CASR):c.453G>A (p.Thr151=) rs201849172
NM_000388.4(CASR):c.460G>C (p.Ala154Pro) rs1559956753
NM_000388.4(CASR):c.463A>G (p.Asn155Asp) rs1553766282
NM_000388.4(CASR):c.492+5T>A
NM_000388.4(CASR):c.496A>G (p.Ser166Gly) rs193922441
NM_000388.4(CASR):c.505T>C (p.Ser169Pro) rs1553766709
NM_000388.4(CASR):c.508T>C (p.Ser170Pro) rs1060502862
NM_000388.4(CASR):c.512G>C (p.Ser171Thr) rs1220477298
NM_000388.4(CASR):c.513C>A (p.Ser171Arg) rs764149433
NM_000388.4(CASR):c.527A>G (p.Asn176Ser) rs1060502849
NM_000388.4(CASR):c.553C>A (p.Arg185=) rs104893707
NM_000388.4(CASR):c.610T>C (p.Phe204Leu)
NM_000388.4(CASR):c.613C>T (p.Arg205Cys) rs775751453
NM_000388.4(CASR):c.638C>T (p.Ala213Val) rs1559958979
NM_000388.4(CASR):c.646G>A (p.Asp216Asn) rs768766649
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657
NM_000388.4(CASR):c.659G>A (p.Arg220Gln) rs1202110240
NM_000388.4(CASR):c.712G>C (p.Asp238His)
NM_000388.4(CASR):c.74G>A (p.Arg25Gln) rs568902441
NM_000388.4(CASR):c.751G>C (p.Glu251Gln) rs1060502854
NM_000388.4(CASR):c.757C>A (p.Gln253Lys) rs202179597
NM_000388.4(CASR):c.787A>G (p.Thr263Ala) rs1161925579
NM_000388.4(CASR):c.789G>A (p.Thr263=)
NM_000388.4(CASR):c.836T>G (p.Leu279Arg) rs1553766796
NM_000388.4(CASR):c.853C>T (p.Arg285Trp) rs1553766800
NM_000388.4(CASR):c.857G>A (p.Arg286His)
NM_000388.4(CASR):c.865A>G (p.Thr289Ala) rs1559959294
NM_000388.4(CASR):c.884C>G (p.Ala295Gly) rs1559959332
NM_000388.4(CASR):c.893C>T (p.Ala298Val) rs1064797049
NM_000388.4(CASR):c.936C>G (p.His312Gln) rs1356911586
NM_000388.4(CASR):c.944G>A (p.Gly315Asp) rs1389231880
NM_000388.4(CASR):c.992G>A (p.Arg331Gln) rs747090029

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