List of variants in gene CACNA1A reported as likely benign by Genome Diagnostics Laboratory, University Medical Center Utrecht

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala)	rs28413664	0.02366
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=)	rs41276894	0.01215
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala)	rs16019	0.01053
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=)	rs16059	0.00712
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)	rs16049	0.00467
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)	rs41276886	0.00451
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)	rs150378053	0.00188
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=)	rs182505786	0.00153
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)	rs16009	0.00114
NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr)	rs1052515747	0.00024
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=)	rs572036869	0.00023
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=)	rs749357610	0.00019
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)	rs201236364	0.00012
NM_001127222.2(CACNA1A):c.4591-9C>G	rs16032	0.00005
NM_001127222.2(CACNA1A):c.3000G>A (p.Glu1000=)	rs965510264	0.00002
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr)	rs374063403	0.00002
NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu)	rs1442777428	0.00002
NM_001127222.2(CACNA1A):c.3450C>T (p.Ser1150=)	rs751700486	0.00001
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys)	rs201311000
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)	rs768950814
NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln)	rs539546830

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