List of variants in gene CACNA1A reported as likely pathogenic for CACNA1A-related disorder

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

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.2270_2273dup (p.Ala759fs)
NM_001127222.2(CACNA1A):c.362dup (p.Pro122fs)
NM_001127222.2(CACNA1A):c.4052G>T (p.Arg1351Leu)	rs1555745467
NM_001127222.2(CACNA1A):c.4470C>A (p.Tyr1490Ter)
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn)	rs1555740805
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)	rs1568447650
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met)	rs1057521920
NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His)	rs2144595024
NM_001127222.2(CACNA1A):c.5780_5783dup (p.Ile1929fs)
NM_001127222.2(CACNA1A):c.631+5G>A	rs786200963
NM_001127222.2(CACNA1A):c.815G>A (p.Cys272Tyr)	rs771682941
NM_001127222.2(CACNA1A):c.978+1G>A

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