ClinVar Miner

List of variants in gene CASR studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 271
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.2244= (p.Pro748=) rs1553769059 0.99999
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_000388.4(CASR):c.492+19G>A rs9869985 0.91296
NM_000388.4(CASR):c.493-133T>C rs3749207 0.55530
NM_000388.4(CASR):c.1609-89C>T rs4678174 0.55250
NM_000388.4(CASR):c.493-91C>T rs3749208 0.27432
NM_000388.4(CASR):c.1732+16T>C rs2270916 0.11379
NM_000388.4(CASR):c.1608+52G>A rs2279802 0.08999
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949 0.00194
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173 0.00128
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_000388.4(CASR):c.906C>T (p.Ser302=) rs201067850 0.00063
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083 0.00061
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696 0.00052
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_000388.4(CASR):c.1110G>A (p.Val370=) rs150412204 0.00027
NM_000388.4(CASR):c.885C>T (p.Ala295=) rs147307274 0.00026
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116 0.00016
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329 0.00014
NM_000388.4(CASR):c.546T>A (p.Ser182=) rs200545177 0.00014
NM_000388.4(CASR):c.1287C>T (p.His429=) rs746515147 0.00013
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975 0.00012
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) rs200039241 0.00011
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_000388.4(CASR):c.740C>T (p.Ser247Phe) rs200382161 0.00010
NM_000388.4(CASR):c.114T>C (p.Phe38=) rs61733590 0.00009
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817 0.00008
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn) rs201990892 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000388.4(CASR):c.2870A>G (p.Gln957Arg) rs150979829 0.00006
NM_000388.4(CASR):c.3055G>A (p.Gly1019Arg) rs1060502848 0.00006
NM_000388.4(CASR):c.165G>A (p.Pro55=) rs200018529 0.00005
NM_000388.4(CASR):c.779A>G (p.Gln260Arg) rs200386687 0.00005
NM_000388.4(CASR):c.308C>T (p.Thr103Ile) rs199734455 0.00004
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143 0.00004
NM_000388.4(CASR):c.1033A>G (p.Asn345Asp) rs760506005 0.00003
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn) rs199980578 0.00003
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser) rs146739893 0.00003
NM_000388.4(CASR):c.1668G>A (p.Glu556=) rs186279271 0.00003
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00003
NM_000388.4(CASR):c.566A>G (p.Asn189Ser) rs762998933 0.00003
NM_000388.4(CASR):c.1456G>T (p.Val486Leu) rs201829972 0.00002
NM_000388.4(CASR):c.220A>C (p.Met74Leu) rs745377913 0.00002
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr) rs766445416 0.00002
NM_000388.4(CASR):c.57C>T (p.Ala19=) rs761576251 0.00002
NM_000388.4(CASR):c.613C>T (p.Arg205Cys) rs775751453 0.00002
NM_000388.4(CASR):c.845A>G (p.Glu282Gly) rs751540983 0.00002
NM_000388.4(CASR):c.909C>G (p.Ser303=) rs375005541 0.00002
NM_000388.4(CASR):c.-10C>T rs753659949 0.00001
NM_000388.4(CASR):c.106G>A (p.Gly36Arg) rs193922420 0.00001
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291 0.00001
NM_000388.4(CASR):c.1288G>T (p.Ala430Ser) rs201520875 0.00001
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp) rs751217000 0.00001
NM_000388.4(CASR):c.1412A>T (p.Asn471Ile) rs145042469 0.00001
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg) rs193922423 0.00001
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter) rs886041637 0.00001
NM_000388.4(CASR):c.166G>T (p.Glu56Ter) rs1358793834 0.00001
NM_000388.4(CASR):c.1837G>A (p.Gly613Arg) rs1060502842 0.00001
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr) rs768660050 0.00001
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys) rs767363250 0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939 0.00001
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432 0.00001
NM_000388.4(CASR):c.2102G>A (p.Arg701His) rs1284532044 0.00001
NM_000388.4(CASR):c.2314G>A (p.Ala772Thr) rs199508583 0.00001
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) rs121909258 0.00001
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu) rs1060502856 0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350 0.00001
NM_000388.4(CASR):c.2672G>A (p.Arg891His) rs533567836 0.00001
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala) rs201517907 0.00001
NM_000388.4(CASR):c.2829G>A (p.Gln943=) rs764614440 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000388.4(CASR):c.2942A>G (p.Glu981Gly) rs766653315 0.00001
NM_000388.4(CASR):c.3132G>A (p.Val1044=) rs755277801 0.00001
NM_000388.4(CASR):c.363T>A (p.Asp121Glu) rs201923228 0.00001
NM_000388.4(CASR):c.40A>G (p.Thr14Ala) rs199515839 0.00001
NM_000388.4(CASR):c.427G>A (p.Gly143Arg) rs769256610 0.00001
NM_000388.4(CASR):c.548T>C (p.Phe183Ser) rs1064794824 0.00001
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657 0.00001
NM_000388.4(CASR):c.939G>A (p.Val313=) rs750302987 0.00001
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.*60A>T rs4677948
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) rs1559955362
NM_000388.4(CASR):c.1054T>G (p.Trp352Gly)
NM_000388.4(CASR):c.1056G>A (p.Trp352Ter) rs2107632822
NM_000388.4(CASR):c.1069A>T (p.Asn357Tyr) rs387907392
NM_000388.4(CASR):c.1074C>T (p.Cys358=) rs886044221
NM_000388.4(CASR):c.1076A>T (p.His359Leu) rs1576859031
NM_000388.4(CASR):c.108dup (p.Leu37fs) rs886041823
NM_000388.4(CASR):c.1108G>A (p.Val370Met) rs2074634164
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.1206C>G (p.Ser402Arg) rs755403770
NM_000388.4(CASR):c.1209T>C (p.Ser403=) rs387907400
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln) rs193922421
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys) rs1576859379
NM_000388.4(CASR):c.1309T>C (p.Cys437Arg) rs1559959958
NM_000388.4(CASR):c.1340G>T (p.Gly447Val)
NM_000388.4(CASR):c.134C>A (p.Ala45Glu) rs779995504
NM_000388.4(CASR):c.1376A>G (p.Gln459Arg) rs2107633334
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) rs104893716
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.1466A>G (p.Tyr489Cys) rs1553768108
NM_000388.4(CASR):c.1534A>G (p.Asn512Asp) rs1576870447
NM_000388.4(CASR):c.1541A>G (p.Tyr514Cys)
NM_000388.4(CASR):c.1608+5G>A rs2107643797
NM_000388.4(CASR):c.1608+5del rs2074816023
NM_000388.4(CASR):c.1629C>T (p.Ser543=) rs387907399
NM_000388.4(CASR):c.1637G>A (p.Cys546Tyr) rs2107648244
NM_000388.4(CASR):c.164C>T (p.Pro55Leu) rs886041154
NM_000388.4(CASR):c.1657G>A (p.Gly553Arg) rs104893719
NM_000388.4(CASR):c.1658G>T (p.Gly553Val) rs1576875807
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr) rs1576875819
NM_000388.4(CASR):c.1673A>G (p.Glu558Gly) rs1553768726
NM_000388.4(CASR):c.1687T>C (p.Phe563Leu) rs2074898883
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+10C>T rs201859314
NM_000388.4(CASR):c.1732+1G>T rs1576875919
NM_000388.4(CASR):c.1747A>G (p.Asn583Asp)
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.179G>T (p.Cys60Phe) rs772906030
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.1843G>C (p.Ala615Pro)
NM_000388.4(CASR):c.1849del (p.Thr617fs) rs1553768938
NM_000388.4(CASR):c.1868G>A (p.Gly623Asp) rs2107649545
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser) rs2107649591
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu) rs201852643
NM_000388.4(CASR):c.1913dup (p.Asn639fs) rs1576877163
NM_000388.4(CASR):c.1919C>T (p.Thr640Ile) rs1559968450
NM_000388.4(CASR):c.196C>T (p.Arg66Cys) rs121909266
NM_000388.4(CASR):c.1970C>A (p.Ser657Tyr)
NM_000388.4(CASR):c.197G>A (p.Arg66His) rs1276839362
NM_000388.4(CASR):c.197G>T (p.Arg66Leu) rs1276839362
NM_000388.4(CASR):c.2015C>T (p.Pro672Leu)
NM_000388.4(CASR):c.2023T>C (p.Trp675Arg) rs2107649805
NM_000388.4(CASR):c.2036T>G (p.Leu679Arg) rs1553768983
NM_000388.4(CASR):c.2042A>G (p.Gln681Arg) rs2107649847
NM_000388.4(CASR):c.2054G>A (p.Gly685Asp)
NM_000388.4(CASR):c.2061C>A (p.Ser687Arg) rs2074930161
NM_000388.4(CASR):c.2071T>G (p.Cys691Gly)
NM_000388.4(CASR):c.2097del (p.Asn700fs) rs1576877427
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.2129T>C (p.Ile710Thr) rs2107649977
NM_000388.4(CASR):c.2154G>A (p.Trp718Ter) rs2074932551
NM_000388.4(CASR):c.2154delinsCC (p.Trp718fs) rs1064793353
NM_000388.4(CASR):c.2165del (p.Asn722fs) rs1559968729
NM_000388.4(CASR):c.2229C>T (p.Leu743=) rs372578790
NM_000388.4(CASR):c.2240C>G (p.Pro747Arg)
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln) rs193922433
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg) rs193922433
NM_000388.4(CASR):c.2243C>T (p.Pro748Leu) rs193922433
NM_000388.4(CASR):c.2254C>T (p.Arg752Cys) rs193922434
NM_000388.4(CASR):c.2290A>C (p.Thr764Pro) rs2074935297
NM_000388.4(CASR):c.2292G>C (p.Thr764=) rs199615189
NM_000388.4(CASR):c.2299G>C (p.Glu767Gln)
NM_000388.4(CASR):c.2306C>G (p.Ser769Cys)
NM_000388.4(CASR):c.2332G>C (p.Gly778Arg) rs1479933693
NM_000388.4(CASR):c.2364C>G (p.Phe788Leu) rs886041537
NM_000388.4(CASR):c.2371G>A (p.Ala791Thr) rs2107650405
NM_000388.4(CASR):c.2383del (p.Arg795fs) rs2107650417
NM_000388.4(CASR):c.2392C>T (p.Pro798Ser) rs1576877924
NM_000388.4(CASR):c.2397G>C (p.Glu799Asp) rs752953216
NM_000388.4(CASR):c.2404A>C (p.Asn802His) rs2074937924
NM_000388.4(CASR):c.2431A>G (p.Met811Val) rs1057521129
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000388.4(CASR):c.2454G>A (p.Trp818Ter) rs1576878011
NM_000388.4(CASR):c.2465T>C (p.Ile822Thr) rs1553769120
NM_000388.4(CASR):c.2467C>T (p.Pro823Ser) rs1576878027
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp) rs193922436
NM_000388.4(CASR):c.2506G>T (p.Val836Leu) rs2107650629
NM_000388.4(CASR):c.2540G>A (p.Gly847Asp) rs1064794621
NM_000388.4(CASR):c.2557T>G (p.Phe853Val) rs1576878133
NM_000388.4(CASR):c.2576T>C (p.Ile859Thr)
NM_000388.4(CASR):c.2597G>T (p.Arg866Leu) rs387907401
NM_000388.4(CASR):c.2611G>T (p.Glu871Ter) rs1057520646
NM_000388.4(CASR):c.2617C>T (p.Arg873Cys) rs2074941878
NM_000388.4(CASR):c.2637C>A (p.His879Gln) rs1576878230
NM_000388.4(CASR):c.2639C>G (p.Ala880Gly)
NM_000388.4(CASR):c.2656C>G (p.Arg886Gly)
NM_000388.4(CASR):c.2656C>T (p.Arg886Trp) rs1559969429
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) rs1057520791
NM_000388.4(CASR):c.2776C>T (p.Gln926Ter) rs2107651172
NM_000388.4(CASR):c.2796G>A (p.Gln932=) rs1576878515
NM_000388.4(CASR):c.2901C>A (p.Ile967=) rs199594582
NM_000388.4(CASR):c.2901del (p.Phe968fs) rs2107651486
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.3025C>T (p.Arg1009Ter) rs1256856876
NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe) rs202219108
NM_000388.4(CASR):c.3083A>G (p.Gln1028Arg) rs2074953171
NM_000388.4(CASR):c.3107T>C (p.Val1036Ala) rs387907393
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.323del (p.Leu108fs) rs1559956616
NM_000388.4(CASR):c.325G>A (p.Glu109Lys) rs868732014
NM_000388.4(CASR):c.329C>A (p.Ala110Asp) rs1559956624
NM_000388.4(CASR):c.346G>A (p.Ala116Thr) rs104893691
NM_000388.4(CASR):c.349C>T (p.Gln117Ter) rs2107627659
NM_000388.4(CASR):c.372C>A (p.Asn124Lys) rs757571398
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
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.413C>T (p.Thr138Met) rs121909263
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.440C>T (p.Ser147Leu)
NM_000388.4(CASR):c.442G>A (p.Gly148Ser)
NM_000388.4(CASR):c.449C>A (p.Ser150Tyr) rs1559956735
NM_000388.4(CASR):c.449C>T (p.Ser150Phe) rs1559956735
NM_000388.4(CASR):c.452C>T (p.Thr151Met) rs104893694
NM_000388.4(CASR):c.467T>C (p.Leu156Pro) rs2107627878
NM_000388.4(CASR):c.470T>C (p.Leu157Pro) rs1553766286
NM_000388.4(CASR):c.482A>G (p.Tyr161Cys)
NM_000388.4(CASR):c.488C>G (p.Pro163Arg)
NM_000388.4(CASR):c.488C>T (p.Pro163Leu)
NM_000388.4(CASR):c.493-133_493-132del rs2107631536
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.509C>G (p.Ser170Cys)
NM_000388.4(CASR):c.514A>G (p.Arg172Gly) rs201851934
NM_000388.4(CASR):c.518T>C (p.Leu173Pro) rs2107631736
NM_000388.4(CASR):c.527A>G (p.Asn176Ser) rs1060502849
NM_000388.4(CASR):c.533A>G (p.Asn178Ser)
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.554G>C (p.Arg185Pro) rs104893689
NM_000388.4(CASR):c.554del (p.Arg185fs) rs193922442
NM_000388.4(CASR):c.577C>T (p.Gln193Ter) rs1064793992
NM_000388.4(CASR):c.61G>A (p.Gly21Arg) rs1064794290
NM_000388.4(CASR):c.624G>T (p.Trp208Cys) rs2107631965
NM_000388.4(CASR):c.638C>T (p.Ala213Val) rs1559958979
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.653A>G (p.Tyr218Cys) rs2074624616
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.664G>A (p.Gly222Arg) rs2107632066
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>C (p.Leu242Pro) rs1064794676
NM_000388.4(CASR):c.725T>G (p.Leu242Arg) rs1064794676
NM_000388.4(CASR):c.741dup (p.Asp248Ter)
NM_000388.4(CASR):c.74G>A (p.Arg25Gln) rs568902441
NM_000388.4(CASR):c.767T>C (p.Val256Ala) rs2074626876
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_000388.4(CASR):c.823_824del (p.Asp275fs) rs1553766794
NM_000388.4(CASR):c.879G>T (p.Trp293Cys) rs773142330
NM_000388.4(CASR):c.888C>T (p.Ser296=) rs759988398
NM_000388.4(CASR):c.893C>T (p.Ala298Val) rs1064797049
NM_000388.4(CASR):c.903del (p.Ser302fs) rs2107632517
NM_000388.4(CASR):c.920T>C (p.Met307Thr) rs387907397
NM_000388.4(CASR):c.929A>G (p.Tyr310Cys) rs867475575
NM_000388.4(CASR):c.92A>G (p.Asp31Gly) rs1064795924
NM_000388.4(CASR):c.95T>A (p.Ile32Asn)
NM_000388.4(CASR):c.992G>A (p.Arg331Gln) rs747090029
NM_000388.4(CASR):c.99C>T (p.Ile33=) rs387907398

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