ClinVar Miner

List of variants in gene CACNA1D reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001128840.3(CACNA1D):c.5017G>A (p.Glu1673Lys) rs147973409 0.00073
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His) rs115066564 0.00036
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) rs199874790 0.00035
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile) rs373740752 0.00008
NM_001128840.3(CACNA1D):c.5819C>G (p.Ser1940Cys) rs948083314 0.00007
NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His) rs150366975 0.00007
NM_001128840.3(CACNA1D):c.6142C>T (p.Arg2048Trp) rs552738200 0.00004
NM_000720.4(CACNA1D):c.1501G>A (p.Ala501Thr) rs779236953 0.00003
NM_001128840.3(CACNA1D):c.5557G>A (p.Glu1853Lys) rs767266272 0.00003
NM_001128840.3(CACNA1D):c.4898C>T (p.Ala1633Val) rs201969994 0.00002
NM_001128840.3(CACNA1D):c.5015G>A (p.Arg1672Gln) rs148898845 0.00002
NM_001128840.3(CACNA1D):c.6062G>A (p.Arg2021His) rs748413924 0.00002
NM_000720.4(CACNA1D):c.1493G>A (p.Arg498Gln) rs549378386 0.00001
NM_001128840.3(CACNA1D):c.2785A>G (p.Ile929Val) rs778931143 0.00001
NM_001128840.3(CACNA1D):c.4717C>T (p.Leu1573Phe) rs373600397 0.00001
NM_001128840.3(CACNA1D):c.4864C>T (p.Arg1622Trp) rs145414503 0.00001
NM_001128840.3(CACNA1D):c.5409-4A>G rs773683728 0.00001
NM_001128840.3(CACNA1D):c.6157G>A (p.Asp2053Asn) rs778071347 0.00001
NM_000720.4(CACNA1D):c.1528C>G (p.Arg510Gly)
NM_000720.4(CACNA1D):c.1528C>T (p.Arg510Trp) rs370024486
NM_000720.4(CACNA1D):c.1529G>T (p.Arg510Leu)
NM_001128840.3(CACNA1D):c.1105G>A (p.Val369Met)
NM_001128840.3(CACNA1D):c.127C>T (p.Pro43Ser) rs2107069325
NM_001128840.3(CACNA1D):c.1300G>C (p.Asp434His) rs2108590867
NM_001128840.3(CACNA1D):c.1364A>G (p.Glu455Gly)
NM_001128840.3(CACNA1D):c.1455C>G (p.Asn485Lys)
NM_001128840.3(CACNA1D):c.235T>A (p.Ser79Thr)
NM_001128840.3(CACNA1D):c.2447A>C (p.Asp816Ala)
NM_001128840.3(CACNA1D):c.2TGA[8] (p.Met7dup) rs751190058
NM_001128840.3(CACNA1D):c.2TGA[9] (p.Met7_Lys8insMetMet)
NM_001128840.3(CACNA1D):c.3125A>G (p.Tyr1042Cys)
NM_001128840.3(CACNA1D):c.3218G>C (p.Arg1073Pro)
NM_001128840.3(CACNA1D):c.3254A>G (p.Asp1085Gly) rs1553659646
NM_001128840.3(CACNA1D):c.3560G>A (p.Arg1187Lys)
NM_001128840.3(CACNA1D):c.3728T>C (p.Val1243Ala)
NM_001128840.3(CACNA1D):c.377+1G>A
NM_001128840.3(CACNA1D):c.3915+1G>T
NM_001128840.3(CACNA1D):c.4321A>G (p.Ile1441Val)
NM_001128840.3(CACNA1D):c.4909A>G (p.Thr1637Ala)
NM_001128840.3(CACNA1D):c.4976C>T (p.Ser1659Leu)
NM_001128840.3(CACNA1D):c.5072A>T (p.Asn1691Ile)
NM_001128840.3(CACNA1D):c.5122C>T (p.His1708Tyr)
NM_001128840.3(CACNA1D):c.5135A>G (p.His1712Arg)
NM_001128840.3(CACNA1D):c.5276A>G (p.Asn1759Ser)
NM_001128840.3(CACNA1D):c.5435G>C (p.Arg1812Thr)
NM_001128840.3(CACNA1D):c.5447G>A (p.Gly1816Glu)
NM_001128840.3(CACNA1D):c.545C>T (p.Ala182Val)
NM_001128840.3(CACNA1D):c.5596G>T (p.Gly1866Cys)
NM_001128840.3(CACNA1D):c.5935C>T (p.Arg1979Trp)
NM_001128840.3(CACNA1D):c.5947A>C (p.Thr1983Pro)
NM_001128840.3(CACNA1D):c.5999T>C (p.Leu2000Pro)
NM_001128840.3(CACNA1D):c.6044G>C (p.Ser2015Thr) rs766889110
NM_001128840.3(CACNA1D):c.82A>G (p.Arg28Gly)

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