List of variants reported as pathogenic for Elevated circulating creatine kinase concentration

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)	rs116840778	0.00001
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.3433-1G>A	rs398123939
NM_004006.3(DMD):c.6139C>T (p.Gln2047Ter)	rs1057516028
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs)	rs863225015
NM_012210.4(TRIM32):c.1365_1366dup (p.Thr456fs)	rs886044913
NM_033337.3(CAV3):c.10_17del (p.Glu4fs)	rs778914298
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)	rs116840789
NM_033337.3(CAV3):c.290_292del (p.Phe97del)	rs199476335
NM_033337.3(CAV3):c.86C>T (p.Pro29Leu)	rs116840786

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