ClinVar Miner

List of variants studied for Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001281747.2(MLIP):c.2530C>T (p.Arg844Ter) rs539057828 0.00002
NM_001281747.2(MLIP):c.1739del (p.His580fs) rs2481741286
NM_001281747.2(MLIP):c.1825A>T (p.Lys609Ter) rs901032025
NM_001281747.2(MLIP):c.1832del (p.Phe611fs) rs2481742586
NM_001281747.2(MLIP):c.2273del (p.Leu758fs) rs1353661531
NM_001281747.2(MLIP):c.2284C>T (p.Gln762Ter) rs1293901426
NM_001281747.2(MLIP):c.2443del (p.Ser815fs) rs2481953351
NM_001281747.2(MLIP):c.628C>T (p.Gln210Ter) rs2481647144

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