ClinVar Miner

List of variants studied for creatine phosphokinase, elevated serum by Institute of Human Genetics, University of Wuerzburg

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.929G>A (p.Arg310His) rs759130375 0.00004
NM_004281.4(BAG3):c.775C>T (p.Pro259Ser) rs375687199 0.00001
NM_213599.3(ANO5):c.754C>T (p.Leu252Phe) rs1159326828 0.00001
46,Y,inv(X)(p21.1q13.3)
NC_000023.11:g.32644161_32644191delins32644164_32644199inv
NM_000023.4(SGCA):c.956+14T>C
NM_000152.5(GAA):c.4G>T (p.Gly2Ter) rs1567825175
NM_003673.4(TCAP):c.90_91del (p.Ser31fs) rs1555606976
NM_004006.3(DMD):c.10211del (p.Asp3404fs) rs1114167437
NM_004006.3(DMD):c.1509del (p.Glu503fs) rs2055460202
NM_004006.3(DMD):c.3030_3031del (p.Pro1011fs) rs2148460005
NM_004006.3(DMD):c.3603G>A (p.Lys1201=) rs1265370991
NM_004006.3(DMD):c.4071+1del rs1114167439
NM_004006.3(DMD):c.4883T>C (p.Leu1628Pro) rs2147260898
NM_004006.3(DMD):c.6139C>T (p.Gln2047Ter) rs1057516028
NM_004006.3(DMD):c.650-39498A>G rs1556980528
NM_004006.3(DMD):c.9527A>G (p.Asp3176Gly) rs886044916
NM_004393.6(DAG1):c.839del (p.Pro280fs) rs2107929323
NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr) rs2058348746
NM_012210.4(TRIM32):c.1365_1366dup (p.Thr456fs) rs886044913
NM_013382.7(POMT2):c.2081C>T (p.Ser694Leu)
NM_021083.4(XK):c.771G>A (p.Trp257Ter)
NM_021971.4(GMPPB):c.1004A>T (p.Glu335Val) rs2080415058
NM_021971.4(GMPPB):c.358A>G (p.Met120Val) rs1559697515
NM_213599.3(ANO5):c.364-2A>G rs776474397
NM_213599.3(ANO5):c.758A>C (p.His253Pro) rs886044915

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