ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic for Familial hemiplegic migraine type 1

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Total variants: 12
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HGVS dbSNP
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.2141T>C (p.Val714Ala) rs121908213
NM_001127221.1(CACNA1A):c.2145C>A (p.Asp715Glu) rs121908218
NM_001127221.1(CACNA1A):c.4037G>A (p.Arg1346Gln) rs121908230
NM_001127221.1(CACNA1A):c.4151A>G (p.Tyr1384Cys) rs121908219
NM_001127221.1(CACNA1A):c.4366G>T (p.Val1456Leu) rs121908237
NM_001127221.1(CACNA1A):c.4999C>T (p.Arg1667Trp) rs121908220
NM_001127221.1(CACNA1A):c.5126T>C (p.Ile1709Thr) rs121909326
NM_001127221.1(CACNA1A):c.5428A>C (p.Ile1810Leu) rs121908214
NM_001127221.1(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127221.1(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225

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