ClinVar Miner

List of variants reported as pathogenic for familial periodic paralysis by Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000069.3(CACNA1S):c.1582C>G (p.Arg528Gly) rs80338778
NM_000069.3(CACNA1S):c.2700G>C (p.Arg900Ser)
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000083.3(CLCN1):c.2014C>G (p.Arg672Gly)
NM_000083.3(CLCN1):c.2015G>A (p.Arg672His)
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly) rs80338785
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys) rs199473389
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820

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