ClinVar Miner

List of variants in gene CASR reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 52
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HGVS dbSNP
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) rs1559955362
NM_000388.4(CASR):c.1309T>C (p.Cys437Arg) rs1559959958
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys) rs1553768108
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.1693T>G (p.Cys565Gly) rs1559967708
NM_000388.4(CASR):c.1732+16T>C rs2270916
NM_000388.4(CASR):c.1765T>G (p.Phe589Val) rs1553768892
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) rs104893712
NM_000388.4(CASR):c.1849del (p.Thr617fs) rs1553768938
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.2045C>T (p.Pro682Leu) rs1553768989
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.2101del (p.Arg701fs) rs1553769004
NM_000388.4(CASR):c.2111T>C (p.Leu704Pro) rs1559968657
NM_000388.4(CASR):c.2203C>A (p.Gln735Lys) rs1553769052
NM_000388.4(CASR):c.220A>C (p.Met74Leu) rs745377913
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr) rs375468610
NM_000388.4(CASR):c.2244= (p.Pro748=) rs1553769059
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) rs121909258
NM_000388.4(CASR):c.2519C>T (p.Ala840Val) rs1553769127
NM_000388.4(CASR):c.2548G>A (p.Ala850Thr) rs1418475623
NM_000388.4(CASR):c.2549C>A (p.Ala850Glu) rs373819680
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711
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.2730C>A (p.Pro910=) rs34200949
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636
NM_000388.4(CASR):c.3031= (p.Glu1011=) rs1801726
NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe)
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.377A>T (p.Asp126Val) rs1553766257
NM_000388.4(CASR):c.449C>T (p.Ser150Phe) rs1559956735
NM_000388.4(CASR):c.470T>C (p.Leu157Pro) rs1553766286
NM_000388.4(CASR):c.492+19G>A rs9869985
NM_000388.4(CASR):c.527A>G (p.Asn176Ser) rs1060502849
NM_000388.4(CASR):c.551T>C (p.Leu184Pro) rs1553766716
NM_000388.4(CASR):c.554G>C (p.Arg185Pro)
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116
NM_000388.4(CASR):c.587C>A (p.Ala196Asp) rs1553766728
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.680G>A (p.Arg227Gln) rs28936684
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.89G>A (p.Gly30Glu) rs1553765889

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