List of variants studied for Paramyotonia congenita of Von Eulenburg by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)	rs121908551	0.00001
NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp)	rs764718003	0.00001
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr)	rs80338956
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)	rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	rs121908547
NM_000334.4(SCN4A):c.421A>G (p.Ile141Val)	rs121908561
NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg)	rs121908550
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)	rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)	rs121908545
NM_000334.4(SCN4A):c.4367G>A (p.Gly1456Glu)	rs121908554
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile)	rs121908559
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)	rs121908548

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