ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser) rs751726770 0.00004
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile) rs373224251 0.00004
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001127222.2(CACNA1A):c.1025C>G (p.Pro342Arg)
NM_001127222.2(CACNA1A):c.190C>T (p.Pro64Ser) rs1982996175
NM_001127222.2(CACNA1A):c.2077T>A (p.Phe693Ile) rs2057841232
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del) rs750826355
NM_001127222.2(CACNA1A):c.3697C>T (p.Arg1233Cys) rs2057333004
NM_001127222.2(CACNA1A):c.3881A>T (p.Lys1294Met)
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr) rs2056767982
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln) rs2144758462
NM_001127222.2(CACNA1A):c.5233C>T (p.Leu1745Phe) rs2055823924
NM_001127222.2(CACNA1A):c.539+2387G>T
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His) rs1057521547
NM_001127222.2(CACNA1A):c.6004G>A (p.Gly2002Ser) rs1568424111
NM_001127222.2(CACNA1A):c.6691del (p.Glu2231fs) rs2144501233
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg) rs1599292506
NM_001127222.2(CACNA1A):c.7316C>T (p.Pro2439Leu) rs1235870142

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