ClinVar Miner

List of variants reported as not provided for Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 by GenomeConnect - Brain Gene Registry

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Total variants: 5
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.5936A>C (p.Glu1979Ala)
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832

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