ClinVar Miner

List of variants in gene CASR reported as uncertain significance for not specified

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
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.2237C>T (p.Ala746Val) rs139417576 0.00021
NM_000388.4(CASR):c.757C>A (p.Gln253Lys) rs202179597 0.00015
NM_000388.4(CASR):c.1510G>A (p.Val504Met) rs201536450 0.00009
NM_000388.4(CASR):c.2356A>G (p.Ile786Val) rs371882068 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000388.4(CASR):c.3055G>A (p.Gly1019Arg) rs1060502848 0.00006
NM_000388.4(CASR):c.1327C>A (p.Leu443Ile) rs267599574 0.00003
NM_000388.4(CASR):c.566A>G (p.Asn189Ser) rs762998933 0.00003
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.1367A>G (p.Glu456Gly) rs2074639185 0.00001
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser) rs140347078 0.00001
NM_000388.4(CASR):c.1861G>A (p.Val621Met) rs751538967 0.00001
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662 0.00001
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr) rs375468610 0.00001
NM_000388.4(CASR):c.2548G>A (p.Ala850Thr) rs1418475623 0.00001
NM_000388.4(CASR):c.2638G>A (p.Ala880Thr) rs763865303 0.00001
NM_000388.4(CASR):c.40A>G (p.Thr14Ala) rs199515839 0.00001
NM_000388.4(CASR):c.492+5T>A rs200277155 0.00001
NM_000388.4(CASR):c.1037G>A (p.Gly346Asp) rs2107632791
NM_000388.4(CASR):c.107G>T (p.Gly36Val) rs1559955372
NM_000388.4(CASR):c.1138A>T (p.Ser380Cys) rs2074634758
NM_000388.4(CASR):c.1161C>A (p.Ser387Arg)
NM_000388.4(CASR):c.1199A>T (p.Asn400Ile) rs576643925
NM_000388.4(CASR):c.1223A>G (p.Tyr408Cys) rs2074636776
NM_000388.4(CASR):c.1258G>A (p.Val420Met) rs2107633175
NM_000388.4(CASR):c.1262A>G (p.Tyr421Cys) rs2107633181
NM_000388.4(CASR):c.1268C>A (p.Ala423Glu) rs2107633192
NM_000388.4(CASR):c.1283C>A (p.Ala428Asp) rs895543540
NM_000388.4(CASR):c.1406T>G (p.Phe469Cys) rs1376231303
NM_000388.4(CASR):c.1444T>C (p.Cys482Arg) rs774174934
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys) rs1553768108
NM_000388.4(CASR):c.1522G>A (p.Val508Ile)
NM_000388.4(CASR):c.1562T>C (p.Leu521Pro)
NM_000388.4(CASR):c.1617C>G (p.Phe539Leu)
NM_000388.4(CASR):c.1619C>T (p.Ser540Phe) rs1057518409
NM_000388.4(CASR):c.1663A>G (p.Ile555Val) rs777646067
NM_000388.4(CASR):c.1685G>A (p.Cys562Tyr)
NM_000388.4(CASR):c.173T>A (p.Val58Glu) rs2107625078
NM_000388.4(CASR):c.1765T>G (p.Phe589Val) rs1553768892
NM_000388.4(CASR):c.1802A>G (p.Lys601Arg) rs2107649424
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg) rs2107649522
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu) rs201852643
NM_000388.4(CASR):c.1933G>A (p.Ala645Thr) rs2107649636
NM_000388.4(CASR):c.1949T>C (p.Leu650Pro) rs2107649656
NM_000388.4(CASR):c.1997T>C (p.Leu666Pro) rs2107649736
NM_000388.4(CASR):c.199G>C (p.Gly67Arg) rs1553766217
NM_000388.4(CASR):c.2014_2025del (p.Pro672_Trp675del) rs2107649784
NM_000388.4(CASR):c.2045C>T (p.Pro682Leu) rs1553768989
NM_000388.4(CASR):c.205C>T (p.Arg69Cys) rs1313627454
NM_000388.4(CASR):c.2087T>C (p.Leu696Pro) rs2107649925
NM_000388.4(CASR):c.2096C>G (p.Thr699Ser)
NM_000388.4(CASR):c.2153G>T (p.Trp718Leu) rs961879608
NM_000388.4(CASR):c.2203C>A (p.Gln735Lys) rs1553769052
NM_000388.4(CASR):c.2254C>T (p.Arg752Cys) rs193922434
NM_000388.4(CASR):c.2295C>G (p.Cys765Trp) rs1232096655
NM_000388.4(CASR):c.2332G>C (p.Gly778Arg) rs1479933693
NM_000388.4(CASR):c.2335T>C (p.Tyr779His) rs766889439
NM_000388.4(CASR):c.2339C>A (p.Thr780Asn) rs754332943
NM_000388.4(CASR):c.2448C>G (p.Ile816Met) rs781343891
NM_000388.4(CASR):c.2458T>G (p.Ser820Ala) rs2074939020
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp) rs193922436
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.262C>T (p.Leu88Phe) rs1553766227
NM_000388.4(CASR):c.2638G>C (p.Ala880Pro) rs763865303
NM_000388.4(CASR):c.2653_2682del (p.Ala885_Val894del) rs2107650917
NM_000388.4(CASR):c.2657G>A (p.Arg886Gln) rs1057520791
NM_000388.4(CASR):c.2729C>G (p.Pro910Arg) rs1219288084
NM_000388.4(CASR):c.281G>A (p.Gly94Glu) rs1576854356
NM_000388.4(CASR):c.2917G>A (p.Val973Ile) rs2107651511
NM_000388.4(CASR):c.3064G>A (p.Asp1022Asn) rs2107651862
NM_000388.4(CASR):c.310G>A (p.Val104Ile) rs2074564250
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.416T>C (p.Ile139Thr) rs1060502860
NM_000388.4(CASR):c.472G>A (p.Gly158Arg) rs2107627885
NM_000388.4(CASR):c.494T>G (p.Val165Gly) rs1559958757
NM_000388.4(CASR):c.496A>G (p.Ser166Gly) rs193922441
NM_000388.4(CASR):c.513C>A (p.Ser171Arg) rs764149433
NM_000388.4(CASR):c.518T>A (p.Leu173His)
NM_000388.4(CASR):c.551T>C (p.Leu184Pro) rs1553766716
NM_000388.4(CASR):c.554G>T (p.Arg185Leu) rs104893689
NM_000388.4(CASR):c.580_581delinsCT (p.Ala194Leu)
NM_000388.4(CASR):c.587C>A (p.Ala196Asp) rs1553766728
NM_000388.4(CASR):c.614G>T (p.Arg205Leu) rs763162046
NM_000388.4(CASR):c.691G>A (p.Glu231Lys) rs2107632118
NM_000388.4(CASR):c.707G>A (p.Cys236Tyr) rs1057518616
NM_000388.4(CASR):c.725T>C (p.Leu242Pro) rs1064794676
NM_000388.4(CASR):c.773T>C (p.Val258Ala) rs771989281
NM_000388.4(CASR):c.791C>G (p.Ala264Gly)
NM_000388.4(CASR):c.893C>T (p.Ala298Val) rs1064797049
NM_000388.4(CASR):c.89G>A (p.Gly30Glu) rs1553765889

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