List of variants in gene CACNA1A reported as pathogenic for Inborn genetic diseases

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1634dup (p.Tyr545Ter)	rs1568523843
NM_001127222.2(CACNA1A):c.1912C>T (p.Gln638Ter)	rs1555758842
NM_001127222.2(CACNA1A):c.1922del (p.Phe641fs)	rs1568518139
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	rs121908212
NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter)	rs767534576
NM_001127222.2(CACNA1A):c.2785_2786insT (p.His929fs)	rs1555756091
NM_001127222.2(CACNA1A):c.2806C>T (p.Gln936Ter)	rs1318353774
NM_001127222.2(CACNA1A):c.3103dup (p.Ser1035fs)	rs1131691712
NM_001127222.2(CACNA1A):c.3590_3593del (p.Lys1197fs)	rs2057373332
NM_001127222.2(CACNA1A):c.3822+1G>A	rs794727355
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter)	rs1568473171
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)	rs1555745467
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	rs121909324
NM_001127222.2(CACNA1A):c.5529-1212_5529-1211del	rs1431092862
NM_001127222.2(CACNA1A):c.5884del (p.Met1962fs)
NM_001127222.2(CACNA1A):c.6368del (p.Arg2123fs)	rs1555730902

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