ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr) rs199745070 0.00074
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_001127222.2(CACNA1A):c.978+9T>C rs111366222 0.00041
NM_001127222.2(CACNA1A):c.5133+10G>A rs369033909 0.00029
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014 0.00022
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=) rs17846921 0.00019
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His) rs727503832 0.00017
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp) rs757026025 0.00016
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn) rs371595464 0.00016
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001127222.2(CACNA1A):c.1782-6C>T rs201350764 0.00011
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu) rs551380805 0.00009
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val) rs765051582 0.00009
NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp) rs751926317 0.00009
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=) rs371972266 0.00007
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=) rs780515850 0.00006
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=) rs202216404 0.00005
NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=) rs764453012 0.00004
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr) rs371273055 0.00004
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=) rs188863534 0.00004
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln) rs745775887 0.00004
NM_001127222.2(CACNA1A):c.159G>T (p.Ala53=) rs767892925 0.00003
NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln) rs779044548 0.00003
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) rs749587119 0.00003
NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile) rs376365775 0.00002
NM_001127222.2(CACNA1A):c.4089+3G>A rs781595676 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001127222.2(CACNA1A):c.1389G>A (p.Glu463=) rs886043657 0.00001
NM_001127222.2(CACNA1A):c.2852C>T (p.Ala951Val) rs1442995931 0.00001
NM_001127222.2(CACNA1A):c.330G>A (p.Ala110=) rs375486960 0.00001
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=) rs886043622 0.00001
NM_001127222.2(CACNA1A):c.6066C>T (p.Ser2022=) rs886043571 0.00001
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=) rs760682283 0.00001
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=) rs760994682 0.00001
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys) rs768768744
NM_001127222.2(CACNA1A):c.1320T>C (p.Asp440=) rs1555766555
NM_001127222.2(CACNA1A):c.1555+10A>C rs794727022
NM_001127222.2(CACNA1A):c.1668+9T>C rs794727054
NM_001127222.2(CACNA1A):c.2131A>T (p.Ile711Phe) rs1568514116
NM_001127222.2(CACNA1A):c.2481G>A (p.Pro827=) rs1568509413
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3090-5C>T rs976595665
NM_001127222.2(CACNA1A):c.3092A>G (p.Glu1031Gly) rs886043930
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=) rs886044439
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del) rs750826355
NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser) rs767000559
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=) rs555959123
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) rs794727558
NM_001127222.2(CACNA1A):c.5048C>T (p.Thr1683Ile) rs1568447571
NM_001127222.2(CACNA1A):c.504C>G (p.Gly168=) rs1555789105
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476
NM_001127222.2(CACNA1A):c.592C>G (p.Arg198Gly) rs886042230
NM_001127222.2(CACNA1A):c.6305G>A (p.Arg2102Lys) rs866974416
NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp) rs780467849
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del) rs774721955
NM_001127222.2(CACNA1A):c.6659ACC[3] (p.His2217_His2219dup) rs768950814

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