ClinVar Miner

List of variants reported as uncertain significance for creatine phosphokinase, elevated serum

Included ClinVar conditions (12):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_033337.3(CAV3):c.*834A>T rs771619043 0.00054
NM_033337.3(CAV3):c.*741G>A rs560215660 0.00050
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_033337.3(CAV3):c.*852G>A rs555268992 0.00022
NM_033337.3(CAV3):c.*134G>A rs949111902 0.00016
NM_033337.3(CAV3):c.125A>C (p.Glu42Ala) rs137901165 0.00011
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495 0.00010
NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser) rs140073033 0.00007
NM_005609.4(PYGM):c.929G>A (p.Arg310His) rs759130375 0.00004
NM_033337.3(CAV3):c.*592G>A rs187370461 0.00003
NM_033337.3(CAV3):c.433G>A (p.Val145Met) rs142475018 0.00003
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg) rs757157750 0.00002
NM_033337.3(CAV3):c.*441T>C rs1161338634 0.00002
NM_033337.3(CAV3):c.401C>T (p.Ala134Val) rs201267913 0.00002
NM_004281.4(BAG3):c.775C>T (p.Pro259Ser) rs375687199 0.00001
NM_033337.3(CAV3):c.143C>G (p.Pro48Arg) rs1060502317 0.00001
NM_033337.3(CAV3):c.221G>A (p.Arg74His) rs201893621 0.00001
NM_033337.3(CAV3):c.247C>T (p.Pro83Ser) rs137881434 0.00001
NM_033337.3(CAV3):c.310G>A (p.Val104Met) rs944503745 0.00001
NM_033337.3(CAV3):c.310G>C (p.Val104Leu) rs944503745 0.00001
NM_213599.3(ANO5):c.754C>T (p.Leu252Phe) rs1159326828 0.00001
NM_000023.4(SGCA):c.956+14T>C
NM_000426.4(LAMA2):c.2450+16A>G rs1024374408
NM_000540.3(RYR1):c.1312G>C (p.Glu438Gln) rs765668209
NM_004006.3(DMD):c.3603G>A (p.Lys1201=) rs1265370991
NM_004006.3(DMD):c.4883T>C (p.Leu1628Pro) rs2147260898
NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr) rs2058348746
NM_013382.7(POMT2):c.2081C>T (p.Ser694Leu)
NM_021971.4(GMPPB):c.1004A>T (p.Glu335Val) rs2080415058
NM_033337.3(CAV3):c.*658T>A rs556491932
NM_033337.3(CAV3):c.134T>A (p.Ile45Asn) rs1553614409
NM_033337.3(CAV3):c.182G>A (p.Ser61Asn) rs1060502315
NM_033337.3(CAV3):c.254C>T (p.Ala85Val) rs1553614440
NM_033337.3(CAV3):c.35A>G (p.Gln12Arg) rs1707652057
NM_033337.3(CAV3):c.400G>A (p.Ala134Thr) rs773309037
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys) rs760137559

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