ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance for Migraine, familial hemiplegic, 1

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser) rs751726770 0.00004
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln) rs768048563 0.00003
NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro) rs1220294928 0.00002
NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro) rs2054687187 0.00002
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro) rs2058520816
NM_001127222.2(CACNA1A):c.1555+3_1555+6del rs2058143459
NM_001127222.2(CACNA1A):c.3641C>T (p.Pro1214Leu)
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.4089+18T>G rs1600198282
NM_001127222.2(CACNA1A):c.4702G>A (p.Glu1568Lys)
NM_001127222.2(CACNA1A):c.539+2387G>T
NM_001127222.2(CACNA1A):c.6091G>C (p.Val2031Leu)
NM_001127222.2(CACNA1A):c.6565G>A (p.Asp2189Asn) rs2144502827
NM_001127222.2(CACNA1A):c.689G>T (p.Gly230Val) rs1568574634
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg) rs1599292506
NM_001127222.2(CACNA1A):c.7109G>A (p.Arg2370Gln)

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