ClinVar Miner

List of variants in gene CACNA1A reported as likely pathogenic for Developmental and epileptic encephalopathy, 42

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys) rs779576853 0.00001
NC_000019.9:g.(13470614_13476130)_(13566027_13616745)dup
NM_001127222.2(CACNA1A):c.1282del (p.Ser428fs)
NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter)
NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys)
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val) rs1600292507
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter) rs1555757537
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2144A>C (p.Asn715Thr) rs1555757432
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs) rs2144956340
NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs)
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs) rs1600272344
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs)
NM_001127222.2(CACNA1A):c.3134C>G (p.Ser1045Ter) rs2144889289
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs) rs2057404744
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4067_4069del (p.Ile1356del)
NM_001127222.2(CACNA1A):c.4261del (p.Leu1421fs)
NM_001127222.2(CACNA1A):c.4270G>T (p.Glu1424Ter)
NM_001127222.2(CACNA1A):c.4549G>A (p.Gly1517Arg) rs2144748225
NM_001127222.2(CACNA1A):c.4866+1G>T rs2144725957
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.4927G>T (p.Asp1643Tyr)
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) rs794727558
NM_001127222.2(CACNA1A):c.5033dup (p.Ile1679fs)
NM_001127222.2(CACNA1A):c.5072T>A (p.Leu1691Gln) rs2055835744
NM_001127222.2(CACNA1A):c.5250-2A>G
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del rs1568440440
NM_001127222.2(CACNA1A):c.5531G>A (p.Gly1844Asp)
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter) rs1555730878
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg) rs2059190701
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr) rs1013100046
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764

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