ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic for Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42

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Total variants: 32
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HGVS dbSNP
NC_000019.9:g.(?_13386644)_(13387962_?)del
NC_000019.9:g.(?_13470400)_(13470633_?)del
NM_001127221.1(CACNA1A):c.1082+1G>A rs1272886269
NM_001127221.1(CACNA1A):c.1247_1248dup (p.Phe417fs)
NM_001127221.1(CACNA1A):c.1415dup (p.Glu473fs) rs1568528298
NM_001127221.1(CACNA1A):c.1437C>G (p.Tyr479Ter)
NM_001127221.1(CACNA1A):c.1442del (p.Arg481fs) rs1555762908
NM_001127221.1(CACNA1A):c.1472G>A (p.Trp491Ter) rs1568528144
NM_001127221.1(CACNA1A):c.1503_1524del (p.Leu502fs) rs1555762855
NM_001127221.1(CACNA1A):c.1704G>A (p.Trp568Ter) rs1555759066
NM_001127221.1(CACNA1A):c.1997C>T (p.Thr666Met) rs121908212
NM_001127221.1(CACNA1A):c.2025C>A (p.Tyr675Ter)
NM_001127221.1(CACNA1A):c.2042del (p.Gln681fs) rs1555757523
NM_001127221.1(CACNA1A):c.2194G>T (p.Glu732Ter) rs1555756737
NM_001127221.1(CACNA1A):c.2320_2322delinsAC (p.Val774fs) rs1555756461
NM_001127221.1(CACNA1A):c.2411G>A (p.Trp804Ter)
NM_001127221.1(CACNA1A):c.2758G>T (p.Glu920Ter) rs1555756130
NM_001127221.1(CACNA1A):c.2907_2932del (p.Pro970fs) rs1555755909
NM_001127221.1(CACNA1A):c.3535del (p.Leu1179fs)
NM_001127221.1(CACNA1A):c.3536del (p.Leu1179fs)
NM_001127221.1(CACNA1A):c.4036C>T (p.Arg1346Ter) rs1568473233
NM_001127221.1(CACNA1A):c.4294C>T (p.Arg1432Ter) rs1568470104
NM_001127221.1(CACNA1A):c.4429C>T (p.Gln1477Ter) rs1555743942
NM_001127221.1(CACNA1A):c.4953+1G>T rs1568457080
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.5059C>T (p.Gln1687Ter)
NM_001127221.1(CACNA1A):c.5118T>G (p.Tyr1706Ter)
NM_001127221.1(CACNA1A):c.5559_5560del (p.Tyr1853_Ser1854delinsTer) rs1568440440
NM_001127221.1(CACNA1A):c.5640del (p.Met1881fs)
NM_001127221.1(CACNA1A):c.592C>T (p.Arg198Ter)
NM_001127221.1(CACNA1A):c.6205C>T (p.Arg2069Ter)
NM_001127221.1(CACNA1A):c.928_931del (p.Thr310fs)

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