List of variants in gene combination GH-LCR, SCN4A reported as likely pathogenic for familial periodic paralysis

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln)	rs527236149	0.00003
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.2076C>G (p.Ile692Met)	rs1224997537
NM_000334.4(SCN4A):c.2078T>G (p.Ile693Ser)
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.3403C>A (p.Arg1135Ser)	rs1287863349
NM_000334.4(SCN4A):c.3403C>T (p.Arg1135Cys)
NM_000334.4(SCN4A):c.3445G>T (p.Val1149Leu)	rs1908692348
NM_000334.4(SCN4A):c.3455C>A (p.Ala1152Asp)
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu)	rs1555601448
NM_000334.4(SCN4A):c.3877G>C (p.Val1293Leu)
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)
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu)	rs121908545
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)	rs748517635
NM_000334.4(SCN4A):c.4366G>T (p.Gly1456Trp)	rs2144774834
NM_000334.4(SCN4A):c.4382T>C (p.Leu1461Pro)
NM_000334.4(SCN4A):c.4388G>T (p.Arg1463Leu)	rs771340029
NM_000334.4(SCN4A):c.4433C>T (p.Ser1478Leu)
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)	rs886041805
NM_000334.4(SCN4A):c.4897C>G (p.Gln1633Glu)	rs2144773878

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