ClinVar Miner

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

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_018896.5(CACNA1G):c.6244G>A (p.Val2082Ile) rs752773885 0.00021
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.1924G>A (p.Gly642Ser) rs759240788 0.00005
NM_018896.5(CACNA1G):c.2240G>A (p.Arg747Gln) rs1234012095 0.00004
NM_018896.5(CACNA1G):c.305G>A (p.Arg102Gln) rs763813233 0.00003
NM_018896.5(CACNA1G):c.5313C>T (p.Asp1771=) rs750685341 0.00002
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.1229G>A (p.Arg410Gln)
NM_018896.5(CACNA1G):c.146A>T (p.Glu49Val)
NM_018896.5(CACNA1G):c.1580A>G (p.Asn527Ser)
NM_018896.5(CACNA1G):c.1765G>T (p.Val589Leu)
NM_018896.5(CACNA1G):c.1786A>G (p.Ser596Gly)
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.2390A>G (p.Tyr797Cys)
NM_018896.5(CACNA1G):c.2819C>T (p.Ala940Val) rs1598379966
NM_018896.5(CACNA1G):c.3134C>G (p.Ala1045Gly) rs2145670723
NM_018896.5(CACNA1G):c.3229C>T (p.Pro1077Ser)
NM_018896.5(CACNA1G):c.3344G>A (p.Arg1115His)
NM_018896.5(CACNA1G):c.3449G>A (p.Arg1150Gln)
NM_018896.5(CACNA1G):c.3599A>G (p.Asn1200Ser)
NM_018896.5(CACNA1G):c.3653C>G (p.Pro1218Arg)
NM_018896.5(CACNA1G):c.4296+5G>A
NM_018896.5(CACNA1G):c.4412A>G (p.Asn1471Ser)
NM_018896.5(CACNA1G):c.4781A>C (p.Tyr1594Ser)
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.5695GACAGCCCC[1] (p.1899DSP[1]) rs751210873
NM_018896.5(CACNA1G):c.593G>A (p.Arg198His) rs1393519989
NM_018896.5(CACNA1G):c.6068C>A (p.Pro2023His) rs1470599560
NM_018896.5(CACNA1G):c.6074C>A (p.Pro2025His) rs2146456797
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.6649_6660del (p.Asp2218_Leu2221del)
NM_018896.5(CACNA1G):c.6915dup (p.Leu2306fs) rs1598882581
NM_018896.5(CACNA1G):c.6929G>A (p.Ser2310Asn)
NM_018896.5(CACNA1G):c.800G>A (p.Ser267Asn)

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