ClinVar Miner

List of variants in gene CACNA1E studied for Inborn genetic diseases

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001205293.3(CACNA1E):c.2681C>T (p.Pro894Leu) rs200322209 0.00048
NM_001205293.3(CACNA1E):c.2492G>C (p.Arg831Thr) rs773503365 0.00045
NM_001205293.3(CACNA1E):c.6536C>T (p.Ala2179Val) rs199885694 0.00045
NM_001205293.3(CACNA1E):c.4816-3C>T rs368553615 0.00025
NM_001205293.3(CACNA1E):c.3229G>A (p.Val1077Met) rs371974841 0.00020
NM_001205293.3(CACNA1E):c.2408C>T (p.Pro803Leu) rs566701744 0.00019
NM_001205293.3(CACNA1E):c.3539C>T (p.Ser1180Leu) rs202226007 0.00011
NM_001205293.3(CACNA1E):c.2260C>T (p.His754Tyr) rs142822925 0.00010
NM_001205293.3(CACNA1E):c.6857G>A (p.Arg2286Gln) rs749565023 0.00009
NM_001205293.3(CACNA1E):c.2980G>A (p.Gly994Arg) rs148719824 0.00008
NM_001205293.3(CACNA1E):c.3055G>A (p.Val1019Met) rs547399351 0.00008
NM_001205293.3(CACNA1E):c.6530G>A (p.Arg2177Gln) rs754653742 0.00008
NM_001205293.3(CACNA1E):c.3361C>T (p.Arg1121Cys) rs376475241 0.00007
NM_001205293.3(CACNA1E):c.2765G>A (p.Arg922Gln) rs199820931 0.00006
NM_001205293.3(CACNA1E):c.3124A>G (p.Met1042Val) rs570189573 0.00006
NM_001205293.3(CACNA1E):c.5855T>C (p.Met1952Thr) rs756661624 0.00006
NM_001205293.3(CACNA1E):c.3457C>T (p.Arg1153Cys) rs372912168 0.00005
NM_001205293.3(CACNA1E):c.6434C>T (p.Ser2145Phe) rs189356042 0.00004
NM_001205293.3(CACNA1E):c.241T>C (p.Tyr81His) rs777347120 0.00003
NM_001205293.3(CACNA1E):c.5258G>A (p.Arg1753Gln) rs371470806 0.00003
NM_001205293.3(CACNA1E):c.56C>T (p.Ser19Leu) rs758128368 0.00002
NM_001205293.3(CACNA1E):c.6611A>G (p.Asn2204Ser) rs923912118 0.00002
NM_001205293.3(CACNA1E):c.1256G>A (p.Arg419Gln) rs866035995 0.00001
NM_001205293.3(CACNA1E):c.2635C>T (p.Arg879Trp) rs771126920 0.00001
NM_001205293.3(CACNA1E):c.2755C>T (p.Arg919Trp) rs769941881 0.00001
NM_001205293.3(CACNA1E):c.3253G>A (p.Val1085Met) rs768308084 0.00001
NM_001205293.3(CACNA1E):c.4689+5A>G rs1324836124 0.00001
NM_001205293.3(CACNA1E):c.6346C>T (p.Arg2116Cys) rs765523959 0.00001
NM_001205293.3(CACNA1E):c.6932A>G (p.Asp2311Gly) rs762920383 0.00001
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.1208G>C (p.Gly403Ala)
NM_001205293.3(CACNA1E):c.1232G>A (p.Arg411Gln)
NM_001205293.3(CACNA1E):c.1274G>C (p.Arg425Pro)
NM_001205293.3(CACNA1E):c.2069G>A (p.Gly690Asp) rs1361083258
NM_001205293.3(CACNA1E):c.2075-5C>T
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser) rs869312920
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.2294A>G (p.His765Arg) rs2102541491
NM_001205293.3(CACNA1E):c.2317CAC[1] (p.His774del)
NM_001205293.3(CACNA1E):c.2347A>G (p.Ser783Gly)
NM_001205293.3(CACNA1E):c.2369A>G (p.Gln790Arg)
NM_001205293.3(CACNA1E):c.2504GCCTGGCCCTGG[1] (p.835GLAL[1]) rs763708603
NM_001205293.3(CACNA1E):c.2551A>G (p.Ser851Gly) rs1553338016
NM_001205293.3(CACNA1E):c.278A>G (p.Tyr93Cys)
NM_001205293.3(CACNA1E):c.2810C>T (p.Ser937Phe)
NM_001205293.3(CACNA1E):c.3011C>A (p.Thr1004Asn) rs1655719165
NM_001205293.3(CACNA1E):c.3106G>A (p.Gly1036Arg)
NM_001205293.3(CACNA1E):c.3445A>G (p.Ile1149Val)
NM_001205293.3(CACNA1E):c.355C>G (p.Pro119Ala)
NM_001205293.3(CACNA1E):c.3961A>C (p.Ser1321Arg)
NM_001205293.3(CACNA1E):c.4268T>C (p.Ile1423Thr) rs1658149520
NM_001205293.3(CACNA1E):c.4288G>A (p.Gly1430Arg) rs1553345844
NM_001205293.3(CACNA1E):c.4490T>C (p.Met1497Thr)
NM_001205293.3(CACNA1E):c.4498T>C (p.Tyr1500His)
NM_001205293.3(CACNA1E):c.4606-4G>A
NM_001205293.3(CACNA1E):c.4714A>T (p.Met1572Leu)
NM_001205293.3(CACNA1E):c.5027A>G (p.Lys1676Arg) rs2102770892
NM_001205293.3(CACNA1E):c.50G>A (p.Gly17Glu)
NM_001205293.3(CACNA1E):c.5274dup (p.Ile1759fs)
NM_001205293.3(CACNA1E):c.5647G>C (p.Val1883Leu)
NM_001205293.3(CACNA1E):c.5673G>C (p.Glu1891Asp)
NM_001205293.3(CACNA1E):c.5795G>A (p.Arg1932Gln)
NM_001205293.3(CACNA1E):c.5908G>A (p.Val1970Ile)
NM_001205293.3(CACNA1E):c.5960C>T (p.Ser1987Leu)
NM_001205293.3(CACNA1E):c.5978C>T (p.Ala1993Val)
NM_001205293.3(CACNA1E):c.5990G>A (p.Arg1997Lys)
NM_001205293.3(CACNA1E):c.5990G>T (p.Arg1997Met) rs544113218
NM_001205293.3(CACNA1E):c.6007C>T (p.Arg2003Cys)
NM_001205293.3(CACNA1E):c.6028G>A (p.Val2010Met) rs1553360130
NM_001205293.3(CACNA1E):c.6074G>A (p.Arg2025Gln)
NM_001205293.3(CACNA1E):c.6148C>A (p.Arg2050Ser)
NM_001205293.3(CACNA1E):c.6149G>C (p.Arg2050Pro) rs775134582
NM_001205293.3(CACNA1E):c.6209-3C>T
NM_001205293.3(CACNA1E):c.6223A>G (p.Thr2075Ala)
NM_001205293.3(CACNA1E):c.6230G>A (p.Arg2077His) rs759720068
NM_001205293.3(CACNA1E):c.6311A>C (p.Glu2104Ala)
NM_001205293.3(CACNA1E):c.6568G>A (p.Glu2190Lys)
NM_001205293.3(CACNA1E):c.6646C>A (p.Pro2216Thr)
NM_001205293.3(CACNA1E):c.6799G>A (p.Gly2267Ser)
NM_001205293.3(CACNA1E):c.6851G>A (p.Arg2284Gln)
NM_001205293.3(CACNA1E):c.6890G>A (p.Cys2297Tyr)

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