ClinVar Miner

Variants in gene CACNA1A with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 79
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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.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_001127222.2(CACNA1A):c.978+9T>C rs111366222 0.00041
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=) rs372240227 0.00029
NM_001127222.2(CACNA1A):c.5133+10G>A rs369033909 0.00029
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr) rs1052515747 0.00024
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.7189G>A (p.Val2397Met) rs768129470 0.00020
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His) rs727503832 0.00017
NM_001127222.2(CACNA1A):c.7050C>T (p.Ala2350=) rs932173199 0.00017
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr) rs533884784 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.5987C>T (p.Thr1996Met) rs778274864 0.00015
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=) rs376684786 0.00014
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) rs190551509 0.00013
NM_001127222.2(CACNA1A):c.539+9C>T rs369146237 0.00013
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.2105-15C>T rs190471428 0.00009
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile) rs369742607 0.00009
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val) rs765051582 0.00009
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr) rs201269793 0.00008
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.3649A>G (p.Met1217Val) rs372017604 0.00006
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly) rs771768635 0.00006
NM_001127222.2(CACNA1A):c.6190-3C>A rs368480650 0.00006
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln) rs769040794 0.00006
NM_001127222.2(CACNA1A):c.1199-9C>T rs529977616 0.00005
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.3175C>T (p.Pro1059Ser) rs775079932 0.00004
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr) rs554091859 0.00004
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile) rs373224251 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.1534G>A (p.Glu512Lys) rs375210532 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) rs749587119 0.00003
NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu) rs1442777428 0.00003
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=) rs373678395 0.00002
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser) rs762006290 0.00002
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=) rs758409135 0.00002
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=) rs368203745 0.00002
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala) rs141963371 0.00002
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr) rs374063403 0.00002
NM_001127222.2(CACNA1A):c.6340-7C>A rs765609971 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His) rs755749925 0.00002
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr) rs201398669 0.00001
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His) rs755107633 0.00001
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=) rs756972061 0.00001
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala) rs751675055 0.00001
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg) rs781006387 0.00001
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His) rs200850308 0.00001
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=) rs886043622 0.00001
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=) rs369675855 0.00001
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=) rs760994682 0.00001
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) rs750077868 0.00001
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr) rs535900273
NM_001127222.2(CACNA1A):c.3090-5C>T rs976595665
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser) rs201311000
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=) rs555959123
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del) 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.6657delinsCCAC (p.His2219dup) rs1057518615
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His) rs1064793075

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