ClinVar Miner

List of variants in gene combination CACNA1A, LOC126862864 reported as likely benign

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.4090-313T>C rs149142457 0.00561
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430 0.00034
NM_001127222.2(CACNA1A):c.4125C>T (p.Asn1375=) rs767026062 0.00005
NM_001127222.2(CACNA1A):c.4173C>T (p.Ala1391=) rs371589326 0.00002
NM_001127222.2(CACNA1A):c.4090-16C>G rs758220361 0.00001
NM_001127222.2(CACNA1A):c.4143C>T (p.Ile1381=) rs1244179413 0.00001
NM_001127222.2(CACNA1A):c.4170C>T (p.Phe1390=) rs760102802 0.00001
NM_001127222.2(CACNA1A):c.4203A>G (p.Lys1401=) rs1160017642 0.00001
NM_001127222.2(CACNA1A):c.4090-24CT[2]
NM_001127222.2(CACNA1A):c.4090-4A>G rs2144767685
NM_001127222.2(CACNA1A):c.4179G>A (p.Val1393=)
NM_001127222.2(CACNA1A):c.4197G>A (p.Lys1399=) rs1475353262
NM_001127222.2(CACNA1A):c.4250+10C>T rs1340165763
NM_001127222.2(CACNA1A):c.4250+11A>G
NM_001127222.2(CACNA1A):c.4250+15T>C rs774357662
NM_001127222.2(CACNA1A):c.4250+15T>G
NM_001127222.2(CACNA1A):c.4250+16C>G
NM_001127222.2(CACNA1A):c.4250+16C>T
NM_001127222.2(CACNA1A):c.4250+19G>A

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