List of variants studied for hereditary continuous muscle fiber activity by OMIM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile)	rs104894355
NM_000217.3(KCNA1):c.1223T>C (p.Val408Ala)	rs104894352
NM_000217.3(KCNA1):c.1249C>T (p.Arg417Ter)	rs104894358
NM_000217.3(KCNA1):c.520G>T (p.Val174Phe)	rs104894349
NM_000217.3(KCNA1):c.530T>A (p.Ile177Asn)	rs267607195
NM_000217.3(KCNA1):c.551T>G (p.Phe184Cys)	rs104894357
NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala)	rs104894354
NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg)	rs28933383
NM_000217.3(KCNA1):c.715C>A (p.Arg239Ser)	rs104894348
NM_000217.3(KCNA1):c.745T>A (p.Phe249Ile)	rs104894356
NM_000217.3(KCNA1):c.975G>C (p.Glu325Asp)	rs104894353

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