ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic by Athena Diagnostics Inc

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Gene type:
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Total variants: 17
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HGVS dbSNP
NM_000068.3(CACNA1A):c.3704dup (p.Leu1236Profs) rs1568493323
NM_001127221.1(CACNA1A):c.1363C>T (p.Arg455Ter) rs886039668
NM_001127221.1(CACNA1A):c.1503_1524del (p.Leu502fs) rs1555762855
NM_001127221.1(CACNA1A):c.1748G>A (p.Arg583Gln) rs121908217
NM_001127221.1(CACNA1A):c.1997C>T (p.Thr666Met) rs121908212
NM_001127221.1(CACNA1A):c.2009G>A (p.Trp670Ter) rs1555757537
NM_001127221.1(CACNA1A):c.2042_2043del (p.Gln681fs) rs1064794262
NM_001127221.1(CACNA1A):c.2737C>T (p.Gln913Ter) rs1555756161
NM_001127221.1(CACNA1A):c.3218del (p.Lys1073fs) rs1555753042
NM_001127221.1(CACNA1A):c.3695+1G>A rs1315533129
NM_001127221.1(CACNA1A):c.3928dup (p.Arg1310fs) rs1568485109
NM_001127221.1(CACNA1A):c.4036C>T (p.Arg1346Ter) rs1568473233
NM_001127221.1(CACNA1A):c.4037G>A (p.Arg1346Gln) rs121908230
NM_001127221.1(CACNA1A):c.4046G>A (p.Arg1349Gln) rs1057520918
NM_001127221.1(CACNA1A):c.41del (p.Gly14fs) rs1555797179
NM_001127221.1(CACNA1A):c.439G>A (p.Glu147Lys) rs1568659847
NM_001127221.1(CACNA1A):c.6031C>T (p.Gln2011Ter) rs1355062450

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