List of variants reported as likely pathogenic for Familial hyperkalemic periodic paralysis

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)	rs80338958	0.00003
NM_000334.4(SCN4A):c.4387C>A (p.Arg1463Ser)	rs774453167	0.00003
NM_000334.4(SCN4A):c.3394C>T (p.Arg1132Trp)	rs778176181	0.00002
NM_000334.4(SCN4A):c.4433C>T (p.Ser1478Leu)	rs201911612	0.00002
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu)	rs774183791	0.00002
NM_000334.4(SCN4A):c.3403C>T (p.Arg1135Cys)	rs1287863349	0.00001
NM_000334.4(SCN4A):c.611+1G>A	rs1358028812	0.00001
NM_000334.4(SCN4A):c.665G>A (p.Arg222Gln)	rs865887222	0.00001
NM_000334.4(SCN4A):c.1037-1G>A	rs1909453191
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)	rs121908552
NM_000334.4(SCN4A):c.1606+1G>C	rs2509313987
NM_000334.4(SCN4A):c.1762A>G (p.Ile588Val)	rs2144798704
NM_000334.4(SCN4A):c.2005C>T (p.Arg669Cys)	rs897448432
NM_000334.4(SCN4A):c.2012T>G (p.Phe671Cys)	rs772873287
NM_000334.4(SCN4A):c.2076C>G (p.Ile692Met)	rs1224997537
NM_000334.4(SCN4A):c.2078T>G (p.Ile693Ser)	rs80338956
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)	rs1057518865
NM_000334.4(SCN4A):c.2150T>C (p.Val717Ala)	rs1567823095
NM_000334.4(SCN4A):c.3445G>T (p.Val1149Leu)	rs1908692348
NM_000334.4(SCN4A):c.3455C>A (p.Ala1152Asp)	rs2509291040
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu)	rs1555601448
NM_000334.4(SCN4A):c.3877G>C (p.Val1293Leu)	rs121908551
NM_000334.4(SCN4A):c.4098C>A (p.Asn1366Lys)	rs1908594231
NM_000334.4(SCN4A):c.4109T>C (p.Met1370Thr)	rs1908593639
NM_000334.4(SCN4A):c.4204C>T (p.Leu1402Phe)	rs2509286735
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu)	rs121908545
NM_000334.4(SCN4A):c.4382T>C (p.Leu1461Pro)	rs2144774799
NM_000334.4(SCN4A):c.4388G>T (p.Arg1463Leu)	rs771340029
NM_000334.4(SCN4A):c.4776G>T (p.Met1592Ile)	rs886041805
NM_000334.4(SCN4A):c.4897C>G (p.Gln1633Glu)	rs2144773878
NM_000334.4(SCN4A):c.715A>G (p.Ile239Val)	rs1909519361
NM_000334.4(SCN4A):c.749T>G (p.Leu250Arg)	rs1057521065

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