ClinVar Miner

List of variants in gene CACNA1A reported as likely pathogenic for cerebellar degeneration

Included ClinVar conditions (79):
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile) rs1296629000 0.00001
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met) rs374686479
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser) rs2145004155
NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe) rs2145004096
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del) rs2144980726
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu) rs2144980363
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro) rs1233611505
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs) rs2144956632
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs) rs1555755878
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr) rs2056767982
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro) rs2144773045
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) rs2056767062
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) rs1057519429
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr) rs2144647872
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu) rs2144936093
NM_001127222.2(CACNA1A):c.5264A>G (p.Glu1755Gly)
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala) rs2144622461
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter) rs2055612253
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro) rs2144523407
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852

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