List of variants reported as likely pathogenic for Elevated circulating creatine kinase concentration by Institute of Human Genetics, University of Wuerzburg

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
46,Y,inv(X)(p21.1q13.3)
NC_000023.11:g.32644161_32644191delins32644164_32644199inv
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.4071+1del	rs1114167439
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_021083.4(XK):c.771G>A (p.Trp257Ter)
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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