ClinVar Miner

List of variants in gene CACNA1A reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 22
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HGVS dbSNP
NM_001127221.1(CACNA1A):c.1182G>A (p.Glu394=) rs2248069
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.1521T>C (p.Val507=) rs16009
NM_001127221.1(CACNA1A):c.1575T>A (p.Ile525=) rs16010
NM_001127221.1(CACNA1A):c.1617C>T (p.Tyr539=) rs182505786
NM_001127221.1(CACNA1A):c.2133C>G (p.Ala711=) rs16017
NM_001127221.1(CACNA1A):c.2681G>A (p.Arg894Gln) rs374664760
NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) rs16020
NM_001127221.1(CACNA1A):c.2742C>T (p.Pro914=) rs16021
NM_001127221.1(CACNA1A):c.2754G>C (p.Glu918Asp) rs16022
NM_001127221.1(CACNA1A):c.2978A>T (p.Glu993Val) rs16023
NM_001127221.1(CACNA1A):c.3060G>A (p.Arg1020=) rs16025
NM_001127221.1(CACNA1A):c.3240C>T (p.Ala1080=) rs16026
NM_001127221.1(CACNA1A):c.3313G>A (p.Gly1105Ser) rs16027
NM_001127221.1(CACNA1A):c.3549C>T (p.Val1183=) rs16029
NM_001127221.1(CACNA1A):c.3604_3606AAG[1] (p.Lys1203del) rs772989979
NM_001127221.1(CACNA1A):c.5735-6T>C rs16043
NM_001127221.1(CACNA1A):c.5900G>A (p.Arg1967Gln) rs199886234
NM_001127221.1(CACNA1A):c.6345C>G (p.Thr2115=) rs16049
NM_001127221.1(CACNA1A):c.6381C>T (p.Ser2127=) rs16050
NM_001127221.1(CACNA1A):c.6660T>C (p.His2220=) rs16051
NM_001127221.1(CACNA1A):c.6661_6662insACC (p.His2220dup) rs768950814

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