ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met) rs778274864 0.00015
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del) rs763302316
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.5735G>A (p.Gly1912Glu) rs2054931821
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp) rs2054617959

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