ClinVar Miner

List of variants studied for familial periodic paralysis by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp) rs138541733 0.00016
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133 0.00004
NM_000069.3(CACNA1S):c.2749G>A (p.Val917Met) rs751833750 0.00002
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.4542A>G (p.Gly1514=) rs759053094
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957

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