ClinVar Miner

List of variants in gene CACNA1G studied for Inborn genetic diseases

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Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_018896.5(CACNA1G):c.1646G>C (p.Gly549Ala) rs527691624 0.00073
NM_018896.5(CACNA1G):c.7066C>T (p.Pro2356Ser) rs200980376 0.00049
NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr) rs200203979 0.00043
NM_018896.5(CACNA1G):c.2135G>A (p.Arg712Gln) rs369974810 0.00021
NM_018896.5(CACNA1G):c.3441A>C (p.Glu1147Asp) rs375496086 0.00017
NM_018896.5(CACNA1G):c.3000A>C (p.Glu1000Asp) rs201323872 0.00009
NM_018896.5(CACNA1G):c.3569G>C (p.Arg1190Pro) rs199761120 0.00009
NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu) rs747028553 0.00008
NM_018896.5(CACNA1G):c.3010G>A (p.Asp1004Asn) rs377336879 0.00007
NM_018896.5(CACNA1G):c.6902G>A (p.Arg2301Gln) rs757138454 0.00007
NM_018896.5(CACNA1G):c.6445C>T (p.Arg2149Trp) rs757588716 0.00006
NM_018896.5(CACNA1G):c.2128A>T (p.Ser710Cys) rs543673731 0.00004
NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu) rs1422686570 0.00004
NM_018896.5(CACNA1G):c.3713C>T (p.Ala1238Val) rs751825784 0.00003
NM_018896.5(CACNA1G):c.1569C>A (p.Asp523Glu) rs1290398685 0.00002
NM_018896.5(CACNA1G):c.2132G>A (p.Arg711Gln) rs768461820 0.00002
NM_018896.5(CACNA1G):c.2860G>A (p.Val954Met) rs375782901 0.00001
NM_018896.5(CACNA1G):c.3382C>T (p.Arg1128Trp) rs756958701 0.00001
NM_018896.5(CACNA1G):c.1268T>C (p.Leu423Pro)
NM_018896.5(CACNA1G):c.126del (p.Ser43fs)
NM_018896.5(CACNA1G):c.1408C>T (p.Pro470Ser)
NM_018896.5(CACNA1G):c.1471G>A (p.Val491Ile)
NM_018896.5(CACNA1G):c.1532C>T (p.Thr511Met)
NM_018896.5(CACNA1G):c.1547G>A (p.Arg516Gln)
NM_018896.5(CACNA1G):c.1561A>G (p.Ile521Val)
NM_018896.5(CACNA1G):c.1564C>A (p.Gln522Lys)
NM_018896.5(CACNA1G):c.1616C>G (p.Thr539Arg)
NM_018896.5(CACNA1G):c.1771C>A (p.Pro591Thr)
NM_018896.5(CACNA1G):c.1835C>A (p.Ala612Asp)
NM_018896.5(CACNA1G):c.2048G>A (p.Arg683His)
NM_018896.5(CACNA1G):c.2150G>T (p.Gly717Val)
NM_018896.5(CACNA1G):c.2318A>G (p.Asn773Ser)
NM_018896.5(CACNA1G):c.2454C>T (p.Ser818=)
NM_018896.5(CACNA1G):c.2478G>C (p.Gln826His)
NM_018896.5(CACNA1G):c.2754+4C>T
NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr) rs886041505
NM_018896.5(CACNA1G):c.2924G>A (p.Arg975Gln)
NM_018896.5(CACNA1G):c.2990A>G (p.Asn997Ser)
NM_018896.5(CACNA1G):c.3010G>C (p.Asp1004His)
NM_018896.5(CACNA1G):c.3027C>A (p.Ser1009Arg)
NM_018896.5(CACNA1G):c.3205A>C (p.Thr1069Pro)
NM_018896.5(CACNA1G):c.3268C>T (p.Arg1090Cys)
NM_018896.5(CACNA1G):c.3343C>T (p.Arg1115Cys)
NM_018896.5(CACNA1G):c.3448C>T (p.Arg1150Trp)
NM_018896.5(CACNA1G):c.3449G>A (p.Arg1150Gln)
NM_018896.5(CACNA1G):c.3476G>A (p.Arg1159His)
NM_018896.5(CACNA1G):c.350T>G (p.Leu117Arg)
NM_018896.5(CACNA1G):c.3556A>G (p.Thr1186Ala)
NM_018896.5(CACNA1G):c.3649C>G (p.Pro1217Ala)
NM_018896.5(CACNA1G):c.3709C>A (p.Arg1237Ser)
NM_018896.5(CACNA1G):c.3712G>A (p.Ala1238Thr)
NM_018896.5(CACNA1G):c.3792G>C (p.Arg1264Ser)
NM_018896.5(CACNA1G):c.3803T>G (p.Leu1268Arg)
NM_018896.5(CACNA1G):c.4042G>A (p.Val1348Met)
NM_018896.5(CACNA1G):c.4108G>A (p.Gly1370Ser)
NM_018896.5(CACNA1G):c.4318G>C (p.Val1440Leu)
NM_018896.5(CACNA1G):c.4422+25G>A
NM_018896.5(CACNA1G):c.4480G>A (p.Asp1494Asn)
NM_018896.5(CACNA1G):c.4513-6C>T
NM_018896.5(CACNA1G):c.4697A>G (p.Lys1566Arg)
NM_018896.5(CACNA1G):c.4747A>T (p.Ser1583Cys)
NM_018896.5(CACNA1G):c.478G>A (p.Val160Ile)
NM_018896.5(CACNA1G):c.4796G>A (p.Arg1599His)
NM_018896.5(CACNA1G):c.4957A>G (p.Ile1653Val)
NM_018896.5(CACNA1G):c.4987G>C (p.Val1663Leu)
NM_018896.5(CACNA1G):c.5002C>T (p.Arg1668Cys)
NM_018896.5(CACNA1G):c.5251A>C (p.Met1751Leu)
NM_018896.5(CACNA1G):c.5284G>A (p.Val1762Met)
NM_018896.5(CACNA1G):c.5407A>G (p.Asn1803Asp)
NM_018896.5(CACNA1G):c.5572A>G (p.Asn1858Asp)
NM_018896.5(CACNA1G):c.5720G>A (p.Gly1907Glu)
NM_018896.5(CACNA1G):c.5731C>A (p.Pro1911Thr)
NM_018896.5(CACNA1G):c.5735C>T (p.Ala1912Val)
NM_018896.5(CACNA1G):c.5756C>T (p.Ser1919Phe) rs2146296612
NM_018896.5(CACNA1G):c.5917G>A (p.Asp1973Asn)
NM_018896.5(CACNA1G):c.6094G>A (p.Asp2032Asn)
NM_018896.5(CACNA1G):c.6109C>T (p.Arg2037Trp)
NM_018896.5(CACNA1G):c.6164G>A (p.Arg2055Gln)
NM_018896.5(CACNA1G):c.6170G>C (p.Gly2057Ala)
NM_018896.5(CACNA1G):c.6173G>A (p.Ser2058Asn)
NM_018896.5(CACNA1G):c.6198C>G (p.His2066Gln)
NM_018896.5(CACNA1G):c.6220G>C (p.Ala2074Pro)
NM_018896.5(CACNA1G):c.6322G>A (p.Ala2108Thr)
NM_018896.5(CACNA1G):c.6343_6344delinsAA (p.Pro2115Asn)
NM_018896.5(CACNA1G):c.6515A>T (p.Gln2172Leu)
NM_018896.5(CACNA1G):c.6535C>A (p.Gln2179Lys)
NM_018896.5(CACNA1G):c.6540C>G (p.His2180Gln)
NM_018896.5(CACNA1G):c.6743G>T (p.Ser2248Ile)
NM_018896.5(CACNA1G):c.6811G>A (p.Ala2271Thr)
NM_018896.5(CACNA1G):c.6824T>C (p.Leu2275Pro)
NM_018896.5(CACNA1G):c.68A>C (p.Asn23Thr)
NM_018896.5(CACNA1G):c.6901C>T (p.Arg2301Trp)
NM_018896.5(CACNA1G):c.6916C>T (p.Leu2306Phe)
NM_018896.5(CACNA1G):c.6973C>A (p.Pro2325Thr)
NM_018896.5(CACNA1G):c.7050C>G (p.Asp2350Glu)
NM_018896.5(CACNA1G):c.7075A>G (p.Lys2359Glu)
NM_018896.5(CACNA1G):c.7093C>G (p.Leu2365Val)
NM_018896.5(CACNA1G):c.839G>A (p.Arg280Gln)

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