ClinVar Miner

List of variants in gene CASR reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.2244= (p.Pro748=) rs1553769059 0.99999
NM_000388.4(CASR):c.492+19G>A rs9869985 0.91296
NM_000388.4(CASR):c.1732+16T>C rs2270916 0.11379
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636 0.08688
NM_000388.4(CASR):c.3031= (p.Glu1011=) rs1801726 0.08251
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.6A>C (p.Ala2=) rs112042188 0.00098
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083 0.00061
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116 0.00016
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975 0.00012
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000388.4(CASR):c.165G>A (p.Pro55=) rs200018529 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.220A>C (p.Met74Leu) rs745377913 0.00002
NM_000388.4(CASR):c.106G>A (p.Gly36Arg) rs193922420 0.00001
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp) rs751217000 0.00001
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg) rs193922423 0.00001
NM_000388.4(CASR):c.166G>T (p.Glu56Ter) rs1358793834 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.2216G>A (p.Cys739Tyr) rs375468610 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.2548G>A (p.Ala850Thr) rs1418475623 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000388.4(CASR):c.427G>A (p.Gly143Arg) rs769256610 0.00001
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) rs1559955362
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.1376A>G (p.Gln459Arg) rs2107633334
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys) rs1553768108
NM_000388.4(CASR):c.1608+5G>A rs2107643797
NM_000388.4(CASR):c.1608+5del rs2074816023
NM_000388.4(CASR):c.164C>T (p.Pro55Leu) rs886041154
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.1687T>C (p.Phe563Leu) rs2074898883
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.1765T>G (p.Phe589Val) rs1553768892
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.1849del (p.Thr617fs) rs1553768938
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser) rs2107649591
NM_000388.4(CASR):c.1913dup (p.Asn639fs) rs1576877163
NM_000388.4(CASR):c.1919C>T (p.Thr640Ile) rs1559968450
NM_000388.4(CASR):c.197G>T (p.Arg66Leu) rs1276839362
NM_000388.4(CASR):c.199G>C (p.Gly67Arg) rs1553766217
NM_000388.4(CASR):c.2023T>C (p.Trp675Arg) rs2107649805
NM_000388.4(CASR):c.2042A>G (p.Gln681Arg) rs2107649847
NM_000388.4(CASR):c.2045C>T (p.Pro682Leu) rs1553768989
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.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.2203C>A (p.Gln735Lys) rs1553769052
NM_000388.4(CASR):c.2240C>G (p.Pro747Arg)
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.2306C>G (p.Ser769Cys)
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.2449G>A (p.Val817Ile) rs1057518933
NM_000388.4(CASR):c.2454G>A (p.Trp818Ter) rs1576878011
NM_000388.4(CASR):c.2519C>T (p.Ala840Val) rs1553769127
NM_000388.4(CASR):c.2549C>A (p.Ala850Glu) rs373819680
NM_000388.4(CASR):c.2557T>G (p.Phe853Val) rs1576878133
NM_000388.4(CASR):c.262C>T (p.Leu88Phe) rs1553766227
NM_000388.4(CASR):c.2638G>C (p.Ala880Pro) rs763865303
NM_000388.4(CASR):c.2656C>G (p.Arg886Gly)
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) rs1057520791
NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe) rs202219108
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.329C>A (p.Ala110Asp) rs1559956624
NM_000388.4(CASR):c.372C>A (p.Asn124Lys) rs757571398
NM_000388.4(CASR):c.377A>T (p.Asp126Val) rs1553766257
NM_000388.4(CASR):c.449C>T (p.Ser150Phe) rs1559956735
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.488C>G (p.Pro163Arg)
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.551T>C (p.Leu184Pro) rs1553766716
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.587C>A (p.Ala196Asp) rs1553766728
NM_000388.4(CASR):c.61G>A (p.Gly21Arg) rs1064794290
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.662C>T (p.Pro221Leu) rs397514728
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.823_824del (p.Asp275fs) rs1553766794
NM_000388.4(CASR):c.893C>T (p.Ala298Val) rs1064797049
NM_000388.4(CASR):c.89G>A (p.Gly30Glu) rs1553765889

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