ClinVar Miner

Variants in gene CACNA1D with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 42
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HGVS dbSNP gnomAD frequency
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met) rs35090700 0.00107
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932 0.00101
NM_001128840.3(CACNA1D):c.5017G>A (p.Glu1673Lys) rs147973409 0.00073
NM_001128840.3(CACNA1D):c.2812-14G>T rs369180125 0.00052
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) rs375811590 0.00043
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056 0.00041
NM_001128840.3(CACNA1D):c.1477T>A (p.Cys493Ser) rs139380111 0.00037
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His) rs115066564 0.00036
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr) rs144474773 0.00036
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) rs199874790 0.00035
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=) rs41276445 0.00034
NM_001128840.3(CACNA1D):c.3821C>T (p.Ser1274Phe) rs200382504 0.00019
NM_001128840.3(CACNA1D):c.1385G>A (p.Arg462Gln) rs35057005 0.00014
NM_001128840.3(CACNA1D):c.5971C>T (p.Arg1991Trp) rs367976757 0.00013
NM_001128840.3(CACNA1D):c.1637A>G (p.Asn546Ser) rs55797424 0.00012
NM_001128840.3(CACNA1D):c.5417A>G (p.Tyr1806Cys) rs369626956 0.00012
NM_001128840.3(CACNA1D):c.6100C>T (p.Arg2034Trp) rs142692903 0.00011
NM_001128840.3(CACNA1D):c.3115-3C>T rs779910083 0.00010
NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr) rs759409255 0.00010
NM_001128840.3(CACNA1D):c.5473C>T (p.Arg1825Trp) rs144688228 0.00010
NM_001128840.3(CACNA1D):c.6101G>A (p.Arg2034Gln) rs771758707 0.00010
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile) rs373740752 0.00008
NM_001128840.3(CACNA1D):c.789C>G (p.Ser263=) rs369697705 0.00006
NM_001128840.3(CACNA1D):c.962G>A (p.Gly321Glu) rs763483604 0.00006
NM_001128840.3(CACNA1D):c.2069A>G (p.Asn690Ser) rs149676780 0.00004
NM_001128840.3(CACNA1D):c.5439C>T (p.Ser1813=) rs761519681 0.00004
NM_001128840.3(CACNA1D):c.6217C>T (p.Arg2073Cys) rs140215004 0.00004
NM_001128840.3(CACNA1D):c.4111-8C>G rs751553150 0.00003
NM_001128840.3(CACNA1D):c.1892+3A>G rs779597807 0.00002
NM_001128840.3(CACNA1D):c.2562G>A (p.Lys854=) rs1332817040 0.00001
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu) rs770886605 0.00001
NM_001128840.3(CACNA1D):c.6395A>G (p.Asp2132Gly) rs779549091 0.00001
NM_001128840.3(CACNA1D):c.2414T>C (p.Ile805Thr) rs147933585
NM_001128840.3(CACNA1D):c.2751+14G>T rs748663117
NM_001128840.3(CACNA1D):c.2919-6C>T
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser) rs147146258
NM_001128840.3(CACNA1D):c.3789G>T (p.Gly1263=)
NM_001128840.3(CACNA1D):c.5016AGA[3] (p.Glu1675del) rs778776240
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=) rs776968811
NM_001128840.3(CACNA1D):c.5936G>A (p.Arg1979Gln) rs143354476
NM_001128840.3(CACNA1D):c.6341G>T (p.Arg2114Leu) rs149416995

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