ClinVar Miner

List of variants in gene CACNA1D studied for cardiovascular disorder

Included ClinVar conditions (1426):
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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001128840.3(CACNA1D):c.2407-17T>C rs2612033 0.87820
NM_001128840.3(CACNA1D):c.-54T>C rs312480 0.84251
NM_001128840.3(CACNA1D):c.2812-43T>C rs2612026 0.76939
NM_001128840.3(CACNA1D):c.3007-71G>C rs2612024 0.76839
NM_001128840.3(CACNA1D):c.4045-57G>C rs2278517 0.67693
NM_001128840.3(CACNA1D):c.4690+42G>A rs1829423 0.65647
NM_001128840.3(CACNA1D):c.1104T>C (p.Asp368=) rs2250736 0.64657
NM_001128840.3(CACNA1D):c.2473+103A>T rs2306866 0.58204
NM_001128840.3(CACNA1D):c.2700C>T (p.Ser900=) rs1045958 0.25881
NM_001128840.3(CACNA1D):c.6348C>T (p.Asn2116=) rs10154841 0.24426
NM_001128840.3(CACNA1D):c.4045-43G>A rs35146621 0.20735
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360 0.00534
NM_001128840.3(CACNA1D):c.264C>T (p.Tyr88=) rs28365112 0.00496
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902 0.00391
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=) rs140749530 0.00053
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_000720.4(CACNA1D):c.1480T>C (p.Cys494Arg) rs201775251 0.00015
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile) rs373740752 0.00008
NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His) rs150366975 0.00007
NM_001128840.3(CACNA1D):c.3038G>A (p.Arg1013Gln) rs150147528 0.00005
NM_000720.4(CACNA1D):c.1127C>T (p.Ala376Val) rs759274321 0.00004
NM_001128840.3(CACNA1D):c.6349G>A (p.Gly2117Arg) rs773604700 0.00004
NM_001128840.3(CACNA1D):c.1479-19C>T rs377304772 0.00003
NM_001128840.3(CACNA1D):c.1678A>G (p.Lys560Glu) rs758865477 0.00002
NM_001128840.3(CACNA1D):c.149T>C (p.Val50Ala) rs935163999 0.00001
NM_001128840.3(CACNA1D):c.2143A>G (p.Ile715Val) rs2094940956 0.00001
NM_001128840.3(CACNA1D):c.2146A>G (p.Met716Val) rs775056182 0.00001
NM_001128840.3(CACNA1D):c.6076A>G (p.Thr2026Ala) rs145573139 0.00001
NM_000720.4(CACNA1D):c.1208_1209insGGG (p.Gly403dup) rs398122827
NM_000720.4(CACNA1D):c.1516C>T (p.Pro506Ser) rs1576451128
NM_001128840.3(CACNA1D):c.1013T>G (p.Val338Gly) rs201471889
NM_001128840.3(CACNA1D):c.2248A>T (p.Ile750Phe) rs1576484361
NM_001128840.3(CACNA1D):c.5498A>G (p.Tyr1833Cys) rs1559716901
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363

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