ClinVar Miner

List of variants studied for cerebellar atrophy with seizures and variable developmental delay

Included ClinVar conditions (1):
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe) rs569543350 0.02637
NM_006030.4(CACNA2D2):c.3398C>T (p.Pro1133Leu) rs150832847 0.00197
NM_006030.4(CACNA2D2):c.3099-9dup rs587726240 0.00020
NM_006030.4(CACNA2D2):c.3116G>A (p.Arg1039Lys) rs1013511770 0.00004
NM_006030.4(CACNA2D2):c.223C>T (p.Arg75Trp) rs372777713 0.00003
NM_006030.4(CACNA2D2):c.861G>C (p.Ser287=) rs771844125 0.00003
NM_006030.4(CACNA2D2):c.3052G>T (p.Val1018Leu) rs1428813959 0.00001
NM_006030.4(CACNA2D2):c.782C>T (p.Pro261Leu) rs1211603072 0.00001
NM_006030.4(CACNA2D2):c.829C>T (p.Arg277Ter) rs1477583336 0.00001
NM_006030.4(CACNA2D2):c.1039C>T (p.Gln347Ter) rs2106661644
NM_006030.4(CACNA2D2):c.1126G>T (p.Glu376Ter)
NM_006030.4(CACNA2D2):c.1295del (p.Asn432fs) rs587777165
NM_006030.4(CACNA2D2):c.1357C>T (p.Pro453Ser)
NM_006030.4(CACNA2D2):c.135G>A (p.Trp45Ter)
NM_006030.4(CACNA2D2):c.1555C>T (p.Gln519Ter) rs1559887808
NM_006030.4(CACNA2D2):c.1570G>A (p.Val524Met)
NM_006030.4(CACNA2D2):c.1701+2T>C rs1704971986
NM_006030.4(CACNA2D2):c.1840del (p.Asp614fs) rs2106640003
NM_006030.4(CACNA2D2):c.1907+3A>C rs1263024687
NM_006030.4(CACNA2D2):c.2143+16G>T
NM_006030.4(CACNA2D2):c.277C>T (p.Gln93Ter)
NM_006030.4(CACNA2D2):c.289-6424G>A rs552617472
NM_006030.4(CACNA2D2):c.2949C>G (p.Ile983Met)
NM_006030.4(CACNA2D2):c.2971G>A (p.Asp991Asn) rs1575580823
NM_006030.4(CACNA2D2):c.3119T>C (p.Leu1040Pro) rs587776948
NM_006030.4(CACNA2D2):c.3137T>C (p.Leu1046Pro) rs1575578837
NM_006030.4(CACNA2D2):c.3362T>G (p.Leu1121Arg)
NM_006030.4(CACNA2D2):c.727C>T (p.Pro243Ser) rs2106670030
NM_006030.4(CACNA2D2):c.751G>A (p.Gly251Ser)
NM_006030.4(CACNA2D2):c.785-3C>T rs1575604704
NM_019024.3(HEATR5B):c.4905+3A>G

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