List of variants reported as pathogenic for Hypokalemic periodic paralysis, type 1

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter)	rs148317787	0.00004
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter)	rs767052156	0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)	rs80338777	0.00001
NM_000069.3(CACNA1S):c.1582C>G (p.Arg528Gly)	rs80338778
NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu)	rs267606698
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser)	rs80338779
NM_000069.3(CACNA1S):c.2699G>T (p.Arg900Met)
NM_000069.3(CACNA1S):c.2700G>C (p.Arg900Ser)
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)	rs28930069
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)	rs28930068
NM_000083.3(CLCN1):c.2014C>G (p.Arg672Gly)
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly)	rs80338785
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)	rs527236150
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)	rs121908544
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)	rs748517635

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