ClinVar Miner

List of variants reported as benign for Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000718.4(CACNA1B):c.*80C>T rs2229949 0.75995
NM_000718.4(CACNA1B):c.5583C>T (p.Phe1861=) rs2229948 0.61214
NM_000718.4(CACNA1B):c.5649+9C>A rs58892401 0.01502
NM_000718.4(CACNA1B):c.6072G>A (p.Thr2024=) rs201904272 0.00150
NM_000718.4(CACNA1B):c.3673A>G (p.Ile1225Val) rs200164302 0.00004
NM_000718.4(CACNA1B):c.2986_3000del (p.Thr996_Glu1000del) rs145816559
NM_000718.4(CACNA1B):c.501C>G (p.Asn167Lys) rs4422842
NM_000718.4(CACNA1B):c.6831T>G (p.Thr2277=) rs2278973

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