ClinVar Miner

List of variants in gene CASR studied for not provided

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Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP
GRCh37/hg19 3q21.1(chr3:121933635-121943859)x1
GRCh37/hg19 3q21.1(chr3:121976494-121978343)x4
GRCh37/hg19 3q21.1(chr3:121976494-121979229)x4
NM_000388.4(CASR):c.-10C>T rs753659949
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) rs1559955362
NM_000388.4(CASR):c.1069A>T (p.Asn357Tyr) rs387907392
NM_000388.4(CASR):c.106G>A (p.Gly36Arg) rs193922420
NM_000388.4(CASR):c.1074C>T (p.Cys358=) rs886044221
NM_000388.4(CASR):c.108dup (p.Leu37fs) rs886041823
NM_000388.4(CASR):c.1110G>A (p.Val370=) rs150412204
NM_000388.4(CASR):c.114T>C (p.Phe38=) rs61733590
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp) rs377282860
NM_000388.4(CASR):c.1174C>T (p.Arg392Ter) rs1559959758
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.1192G>A (p.Asp398Asn) rs201177696
NM_000388.4(CASR):c.1209T>C (p.Ser403=) rs387907400
NM_000388.4(CASR):c.1287C>T (p.His429=) rs746515147
NM_000388.4(CASR):c.1309T>C (p.Cys437Arg) rs1559959958
NM_000388.4(CASR):c.1395G>A (p.Arg465=) rs387907391
NM_000388.4(CASR):c.1459G>A (p.Gly487Arg) rs1559965137
NM_000388.4(CASR):c.1629C>T (p.Ser543=) rs387907399
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter) rs886041637
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894
NM_000388.4(CASR):c.164C>T (p.Pro55Leu) rs886041154
NM_000388.4(CASR):c.165G>A (p.Pro55=) rs200018529
NM_000388.4(CASR):c.1668G>A (p.Glu556=) rs186279271
NM_000388.4(CASR):c.1673A>G (p.Glu558Gly) rs1553768726
NM_000388.4(CASR):c.1688T>C (p.Phe563Ser) rs1553768731
NM_000388.4(CASR):c.1693T>G (p.Cys565Gly) rs1559967708
NM_000388.4(CASR):c.1732+16T>C rs2270916
NM_000388.4(CASR):c.1750A>T (p.Lys584Ter) rs1057523748
NM_000388.4(CASR):c.1789T>C (p.Ser597Pro) rs1553768903
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) rs104893712
NM_000388.4(CASR):c.1828G>T (p.Glu610Ter) rs1057520557
NM_000388.4(CASR):c.1837G>A (p.Gly613Arg) rs1060502842
NM_000388.4(CASR):c.1849del (p.Thr617fs) rs1553768938
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu) rs201852643
NM_000388.4(CASR):c.196C>T (p.Arg66Cys) rs121909266
NM_000388.4(CASR):c.197G>T (p.Arg66Leu) rs1276839362
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.2101del (p.Arg701fs) rs1553769004
NM_000388.4(CASR):c.2108T>C (p.Leu703Pro) rs886043656
NM_000388.4(CASR):c.2111T>C (p.Leu704Pro) rs1559968657
NM_000388.4(CASR):c.2154delinsCC (p.Trp718fs) rs1064793353
NM_000388.4(CASR):c.2165del (p.Asn722fs) rs1559968729
NM_000388.4(CASR):c.220A>C (p.Met74Leu) rs745377913
NM_000388.4(CASR):c.2229C>T (p.Leu743=) rs372578790
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln) rs193922433
NM_000388.4(CASR):c.2244= (p.Pro748=) rs1553769059
NM_000388.4(CASR):c.2364C>G (p.Phe788Leu) rs886041537
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) rs121909258
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350
NM_000388.4(CASR):c.2431A>G (p.Met811Val) rs1057521129
NM_000388.4(CASR):c.2465T>C (p.Ile822Thr) rs1553769120
NM_000388.4(CASR):c.2467C>T (p.Pro823Ser)
NM_000388.4(CASR):c.2540G>A (p.Gly847Asp) rs1064794621
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr)
NM_000388.4(CASR):c.2597G>T (p.Arg866Leu) rs387907401
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711
NM_000388.4(CASR):c.2611G>T (p.Glu871Ter) rs1057520646
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) rs1057520791
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975
NM_000388.4(CASR):c.2901C>A (p.Ile967=) rs199594582
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.4(CASR):c.2920A>T (p.Thr974Ser) rs387907396
NM_000388.4(CASR):c.2944C>T (p.Pro982Ser) rs387907395
NM_000388.4(CASR):c.3010del (p.Ser1004fs) rs1131691620
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn) rs201990892
NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe)
NM_000388.4(CASR):c.3107T>C (p.Val1036Ala) rs387907393
NM_000388.4(CASR):c.3132G>A (p.Val1044=) rs755277801
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.323del (p.Leu108fs) rs1559956616
NM_000388.4(CASR):c.329C>A (p.Ala110Asp) rs1559956624
NM_000388.4(CASR):c.363T>A (p.Asp121Glu) rs201923228
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) rs121909260
NM_000388.4(CASR):c.380A>G (p.Glu127Gly) rs121909260
NM_000388.4(CASR):c.422T>C (p.Val141Ala) rs1085307643
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) rs121909264
NM_000388.4(CASR):c.449C>T (p.Ser150Phe) rs1559956735
NM_000388.4(CASR):c.492+19G>A rs9869985
NM_000388.4(CASR):c.499T>A (p.Tyr167Asn) rs1064795096
NM_000388.4(CASR):c.501T>C (p.Tyr167=) rs387907394
NM_000388.4(CASR):c.514A>G (p.Arg172Gly) rs201851934
NM_000388.4(CASR):c.527A>G (p.Asn176Ser) rs1060502849
NM_000388.4(CASR):c.548T>C (p.Phe183Ser) rs1064794824
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.554G>C (p.Arg185Pro)
NM_000388.4(CASR):c.566A>G (p.Asn189Ser) rs762998933
NM_000388.4(CASR):c.577C>T (p.Gln193Ter) rs1064793992
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143
NM_000388.4(CASR):c.613C>T (p.Arg205Cys) rs775751453
NM_000388.4(CASR):c.61G>A (p.Gly21Arg) rs1064794290
NM_000388.4(CASR):c.649G>T (p.Asp217Tyr) rs201091657
NM_000388.4(CASR):c.650A>G (p.Asp217Gly) rs886041155
NM_000388.4(CASR):c.652T>G (p.Tyr218Asp) rs1057520583
NM_000388.4(CASR):c.658C>T (p.Arg220Trp) rs1482119762
NM_000388.4(CASR):c.659G>A (p.Arg220Gln) rs1202110240
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_000388.4(CASR):c.679C>G (p.Arg227Gly) rs1085307984
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000388.4(CASR):c.707G>T (p.Cys236Phe) rs1057518616
NM_000388.4(CASR):c.725T>G (p.Leu242Arg) rs1064794676
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414
NM_000388.4(CASR):c.740C>T (p.Ser247Phe) rs200382161
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000388.4(CASR):c.823_824del (p.Asp275fs) rs1553766794
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) rs200039241
NM_000388.4(CASR):c.885C>T (p.Ala295=) rs147307274
NM_000388.4(CASR):c.888C>T (p.Ser296=)
NM_000388.4(CASR):c.893C>T (p.Ala298Val) rs1064797049
NM_000388.4(CASR):c.920T>C (p.Met307Thr) rs387907397
NM_000388.4(CASR):c.92A>G (p.Asp31Gly) rs1064795924
NM_000388.4(CASR):c.992G>A (p.Arg331Gln) rs747090029
NM_000388.4(CASR):c.99C>T (p.Ile33=) rs387907398

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