ClinVar Miner

List of variants in gene CACNA1A reported as likely pathogenic for Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.2105-2A>G rs906086634 0.00001
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys) rs779576853 0.00001
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His) rs2055849544 0.00001
NC_000019.10:g.(?_13259544)_(13259721_?)del
NC_000019.9:g.(?_13340886)_(13342684_?)del
NC_000019.9:g.(?_13445172)_(13446743_?)dup
NC_000019.9:g.(?_13474954)_(13476240_?)del
NM_001127222.2(CACNA1A):c.1198+1G>A rs1057518513
NM_001127222.2(CACNA1A):c.1345+1G>A rs2145114772
NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala)
NM_001127222.2(CACNA1A):c.1555+2del rs1600313212
NM_001127222.2(CACNA1A):c.1586_1587del (p.Phe529fs) rs1555761603
NM_001127222.2(CACNA1A):c.184T>A (p.Tyr62Asn)
NM_001127222.2(CACNA1A):c.184T>C (p.Tyr62His)
NM_001127222.2(CACNA1A):c.1913+1G>A
NM_001127222.2(CACNA1A):c.2000A>C (p.Glu667Ala)
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met) rs2144979269
NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys) rs886037944
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3823-1G>C
NM_001127222.2(CACNA1A):c.399+1G>A rs2060983144
NM_001127222.2(CACNA1A):c.3990-2A>G rs1057524483
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp) rs1064794858
NM_001127222.2(CACNA1A):c.4073G>A (p.Arg1358Gln)
NM_001127222.2(CACNA1A):c.4089+1G>A
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met) rs121908237
NM_001127222.2(CACNA1A):c.4866+1G>T rs2144725957
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) rs794727558
NM_001127222.2(CACNA1A):c.5032C>A (p.Arg1678Ser)
NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe) rs1568447557
NM_001127222.2(CACNA1A):c.5068-1G>A rs2144648058
NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del) rs2144647916
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu) rs2144647855
NM_001127222.2(CACNA1A):c.5133+2T>A
NM_001127222.2(CACNA1A):c.5134-2del
NM_001127222.2(CACNA1A):c.5273ACA[1] (p.Asn1759del) rs2055675454
NM_001127222.2(CACNA1A):c.540-1G>C rs2144559526
NM_001127222.2(CACNA1A):c.5425A>G (p.Ile1809Val)
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr) rs2055612479
NM_001127222.2(CACNA1A):c.5529-1215C>T rs2144616690
NM_001127222.2(CACNA1A):c.5529-1270A>G
NM_001127222.2(CACNA1A):c.5839+1G>C rs951196653
NM_001127222.2(CACNA1A):c.5840-2A>G rs2144536202
NM_001127222.2(CACNA1A):c.5840-2A>T rs2144536202
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.5940+1G>A rs2144535495
NM_001127222.2(CACNA1A):c.6189+1G>A rs2144524396
NM_001127222.2(CACNA1A):c.6190-2A>C rs1064796709
NM_001127222.2(CACNA1A):c.631+2T>C
NM_001127222.2(CACNA1A):c.676_784+1178del
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser) rs1555774859
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg) rs1555774859
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly) rs2059067761
NM_001127222.2(CACNA1A):c.949A>C (p.Met317Leu)

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