ClinVar Miner

List of variants in gene CACNA1G reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_018896.5(CACNA1G):c.1589G>A (p.Arg530His) rs7222276 0.00445
NM_018896.5(CACNA1G):c.3295G>A (p.Ala1099Thr) rs58240016 0.00431
NM_018896.5(CACNA1G):c.1362C>T (p.Val454=) rs116227985 0.00427
NM_018896.5(CACNA1G):c.4422+43G>A rs56854760 0.00407
NM_018896.5(CACNA1G):c.4422+31G>C rs59226503 0.00339
NM_018896.5(CACNA1G):c.2907G>A (p.Ala969=) rs60134952 0.00280
NM_018896.5(CACNA1G):c.5100G>A (p.Ser1700=) rs61739923 0.00255
NM_018896.5(CACNA1G):c.3084C>T (p.His1028=) rs61741117 0.00194
NM_018896.5(CACNA1G):c.4630C>A (p.Arg1544=) rs60532742 0.00161
NM_018896.5(CACNA1G):c.3704G>A (p.Arg1235Gln) rs150972562 0.00160
NM_018896.5(CACNA1G):c.895G>A (p.Gly299Ser) rs201875227 0.00155
NM_018896.5(CACNA1G):c.4084C>T (p.Leu1362=) rs374849749 0.00149
NM_018896.5(CACNA1G):c.2001C>T (p.Cys667=) rs58207445 0.00148
NM_018896.5(CACNA1G):c.3691-6C>G rs182987793 0.00148
NM_018896.5(CACNA1G):c.3111G>A (p.Pro1037=) rs201745304 0.00125
NM_018896.5(CACNA1G):c.1140+8A>G rs61680572 0.00124
NM_018896.5(CACNA1G):c.858C>A (p.Pro286=) rs56885413 0.00097
NM_018896.5(CACNA1G):c.6298C>T (p.Pro2100Ser) rs201079826 0.00092
NM_018896.5(CACNA1G):c.2043C>T (p.Ala681=) rs368524369 0.00082
NM_018896.5(CACNA1G):c.1646G>C (p.Gly549Ala) rs527691624 0.00073
NM_018896.5(CACNA1G):c.1879G>A (p.Gly627Arg) rs200317339 0.00063
NM_018896.5(CACNA1G):c.3024C>T (p.Pro1008=) rs60632394 0.00059
NM_018896.5(CACNA1G):c.7066C>T (p.Pro2356Ser) rs200980376 0.00049
NM_018896.5(CACNA1G):c.4155C>G (p.Thr1385=) rs201226731 0.00045
NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr) rs200203979 0.00043
NM_018896.5(CACNA1G):c.6710C>A (p.Pro2237His) rs200141555 0.00039
NM_018896.5(CACNA1G):c.286G>A (p.Val96Met) rs201146969 0.00031
NM_018896.5(CACNA1G):c.2739C>T (p.Ile913=) rs9911759 0.00026
NM_018896.5(CACNA1G):c.1056G>A (p.Thr352=) rs57905046 0.00022
NM_018896.5(CACNA1G):c.6244G>A (p.Val2082Ile) rs752773885 0.00021
NM_018896.5(CACNA1G):c.3441A>C (p.Glu1147Asp) rs375496086 0.00017
NM_018896.5(CACNA1G):c.5961G>C (p.Thr1987=) rs199940739 0.00015
NM_018896.5(CACNA1G):c.6077C>T (p.Thr2026Met) rs375919039 0.00011
NM_018896.5(CACNA1G):c.1677C>T (p.Ala559=) rs541194308 0.00010
NM_018896.5(CACNA1G):c.3569G>C (p.Arg1190Pro) rs199761120 0.00009
NM_018896.5(CACNA1G):c.3246G>A (p.Glu1082=) rs769342382 0.00008
NM_018896.5(CACNA1G):c.3010G>A (p.Asp1004Asn) rs377336879 0.00007
NM_018896.5(CACNA1G):c.123G>C (p.Pro41=) rs777628114 0.00006
NM_018896.5(CACNA1G):c.1924G>A (p.Gly642Ser) rs759240788 0.00005
NM_018896.5(CACNA1G):c.2240G>A (p.Arg747Gln) rs1234012095 0.00004
NM_018896.5(CACNA1G):c.831C>T (p.Asn277=) rs199604200 0.00004
NM_018896.5(CACNA1G):c.305G>A (p.Arg102Gln) rs763813233 0.00003
NM_018896.5(CACNA1G):c.684C>T (p.Val228=) rs374387476 0.00003
NM_018896.5(CACNA1G):c.2319C>T (p.Asn773=) rs769689384 0.00002
NM_018896.5(CACNA1G):c.5313C>T (p.Asp1771=) rs750685341 0.00002
NM_018896.5(CACNA1G):c.1533G>A (p.Thr511=) rs936995449 0.00001
NM_018896.5(CACNA1G):c.2223C>T (p.Asp741=) rs529759637 0.00001
NM_018896.5(CACNA1G):c.3398C>T (p.Ser1133Leu) rs758152538 0.00001
NM_018896.5(CACNA1G):c.3512C>T (p.Ser1171Phe) rs759759601 0.00001
NM_018896.5(CACNA1G):c.3834C>T (p.Phe1278=) rs777600772 0.00001
NM_018896.5(CACNA1G):c.5626A>G (p.Lys1876Glu) rs749478275 0.00001
NM_018896.5(CACNA1G):c.1103C>T (p.Ser368Phe) rs1160501227
NM_018896.5(CACNA1G):c.1229G>A (p.Arg410Gln)
NM_018896.5(CACNA1G):c.1302G>A (p.Glu434=)
NM_018896.5(CACNA1G):c.1367G>A (p.Arg456Gln) rs116920450
NM_018896.5(CACNA1G):c.1395C>G (p.Leu465=)
NM_018896.5(CACNA1G):c.1413C>T (p.Leu471=)
NM_018896.5(CACNA1G):c.146A>T (p.Glu49Val)
NM_018896.5(CACNA1G):c.156G>A (p.Pro52=)
NM_018896.5(CACNA1G):c.1580A>G (p.Asn527Ser)
NM_018896.5(CACNA1G):c.1629C>T (p.Ser543=)
NM_018896.5(CACNA1G):c.1633G>C (p.Ala545Pro)
NM_018896.5(CACNA1G):c.1765G>T (p.Val589Leu)
NM_018896.5(CACNA1G):c.1777G>A (p.Val593Met)
NM_018896.5(CACNA1G):c.1786A>G (p.Ser596Gly)
NM_018896.5(CACNA1G):c.1842T>G (p.Ser614=)
NM_018896.5(CACNA1G):c.2048G>A (p.Arg683His)
NM_018896.5(CACNA1G):c.2180C>T (p.Ala727Val)
NM_018896.5(CACNA1G):c.2243G>C (p.Gly748Ala)
NM_018896.5(CACNA1G):c.2296G>A (p.Glu766Lys)
NM_018896.5(CACNA1G):c.2304C>T (p.Pro768=)
NM_018896.5(CACNA1G):c.2390A>G (p.Tyr797Cys)
NM_018896.5(CACNA1G):c.2819C>T (p.Ala940Val) rs1598379966
NM_018896.5(CACNA1G):c.2847C>T (p.Thr949=)
NM_018896.5(CACNA1G):c.3035G>A (p.Gly1012Asp)
NM_018896.5(CACNA1G):c.3134C>G (p.Ala1045Gly) rs2145670723
NM_018896.5(CACNA1G):c.3168G>A (p.Thr1056=)
NM_018896.5(CACNA1G):c.3202C>T (p.Arg1068Cys)
NM_018896.5(CACNA1G):c.3207C>A (p.Thr1069=)
NM_018896.5(CACNA1G):c.3229C>T (p.Pro1077Ser)
NM_018896.5(CACNA1G):c.3265G>A (p.Ala1089Thr)
NM_018896.5(CACNA1G):c.3339C>T (p.Leu1113=)
NM_018896.5(CACNA1G):c.3344G>A (p.Arg1115His)
NM_018896.5(CACNA1G):c.3381G>A (p.Glu1127=)
NM_018896.5(CACNA1G):c.3449G>A (p.Arg1150Gln)
NM_018896.5(CACNA1G):c.3501G>A (p.Glu1167=)
NM_018896.5(CACNA1G):c.354+5GT[18]
NM_018896.5(CACNA1G):c.3599A>G (p.Asn1200Ser)
NM_018896.5(CACNA1G):c.3628C>T (p.Arg1210Trp)
NM_018896.5(CACNA1G):c.3634C>T (p.Leu1212=)
NM_018896.5(CACNA1G):c.3653C>G (p.Pro1218Arg)
NM_018896.5(CACNA1G):c.3669C>T (p.Asp1223=)
NM_018896.5(CACNA1G):c.3728G>A (p.Arg1243Gln)
NM_018896.5(CACNA1G):c.3891C>A (p.Arg1297=)
NM_018896.5(CACNA1G):c.3921C>T (p.Arg1307=)
NM_018896.5(CACNA1G):c.4071C>T (p.Ser1357=)
NM_018896.5(CACNA1G):c.4296+5G>A
NM_018896.5(CACNA1G):c.4326G>A (p.Gln1442=)
NM_018896.5(CACNA1G):c.4412A>G (p.Asn1471Ser)
NM_018896.5(CACNA1G):c.4422+134C>T
NM_018896.5(CACNA1G):c.4422+177C>T
NM_018896.5(CACNA1G):c.442C>T (p.Leu148=)
NM_018896.5(CACNA1G):c.4513-6C>T
NM_018896.5(CACNA1G):c.4601G>A (p.Gly1534Asp) rs1598588782
NM_018896.5(CACNA1G):c.4781A>C (p.Tyr1594Ser)
NM_018896.5(CACNA1G):c.4785C>T (p.Ser1595=)
NM_018896.5(CACNA1G):c.4863C>T (p.Ile1621=)
NM_018896.5(CACNA1G):c.5094C>T (p.Asn1698=)
NM_018896.5(CACNA1G):c.5357G>A (p.Arg1786Gln)
NM_018896.5(CACNA1G):c.5471C>T (p.Thr1824Met)
NM_018896.5(CACNA1G):c.5615A>G (p.Glu1872Gly) rs1598751307
NM_018896.5(CACNA1G):c.5652G>A (p.Ser1884=)
NM_018896.5(CACNA1G):c.5695GACAGCCCC[1] (p.1899DSP[1]) rs751210873
NM_018896.5(CACNA1G):c.5769G>A (p.Leu1923=)
NM_018896.5(CACNA1G):c.593G>A (p.Arg198His) rs1393519989
NM_018896.5(CACNA1G):c.5960C>A (p.Thr1987Lys) rs201565895
NM_018896.5(CACNA1G):c.5961G>A (p.Thr1987=)
NM_018896.5(CACNA1G):c.6068C>A (p.Pro2023His) rs1470599560
NM_018896.5(CACNA1G):c.606G>A (p.Thr202=)
NM_018896.5(CACNA1G):c.6074C>A (p.Pro2025His) rs2146456797
NM_018896.5(CACNA1G):c.6078G>A (p.Thr2026=)
NM_018896.5(CACNA1G):c.6092C>T (p.Pro2031Leu)
NM_018896.5(CACNA1G):c.6152G>A (p.Ser2051Asn)
NM_018896.5(CACNA1G):c.6181G>A (p.Glu2061Lys)
NM_018896.5(CACNA1G):c.6220G>C (p.Ala2074Pro)
NM_018896.5(CACNA1G):c.6394C>T (p.Arg2132Cys)
NM_018896.5(CACNA1G):c.6426C>T (p.Asp2142=)
NM_018896.5(CACNA1G):c.6579G>A (p.Pro2193=) rs57667003
NM_018896.5(CACNA1G):c.6649_6660del (p.Asp2218_Leu2221del)
NM_018896.5(CACNA1G):c.6824T>C (p.Leu2275Pro)
NM_018896.5(CACNA1G):c.6875G>A (p.Gly2292Asp)
NM_018896.5(CACNA1G):c.6915dup (p.Leu2306fs) rs1598882581
NM_018896.5(CACNA1G):c.6929G>A (p.Ser2310Asn)
NM_018896.5(CACNA1G):c.6975C>T (p.Pro2325=)
NM_018896.5(CACNA1G):c.7098C>T (p.Ser2366=)
NM_018896.5(CACNA1G):c.7099G>A (p.Gly2367Ser)
NM_018896.5(CACNA1G):c.7107C>T (p.Ser2369=)
NM_018896.5(CACNA1G):c.78G>A (p.Ser26=) rs577987926
NM_018896.5(CACNA1G):c.800G>A (p.Ser267Asn)
NM_018896.5(CACNA1G):c.861G>A (p.Thr287=)

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