ClinVar Miner

List of variants in gene CACNA1D reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001128840.3(CACNA1D):c.3168-6C>G rs72556355 0.00118
NM_001128840.3(CACNA1D):c.1344C>T (p.Ile448=) rs145203578 0.00105
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932 0.00101
NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=) rs149746093 0.00095
NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=) rs140749530 0.00053
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.2552T>G (p.Leu851Trp) rs186968009 0.00026
NM_001128840.3(CACNA1D):c.4977G>A (p.Ser1659=) rs150463212 0.00025
NM_001128840.3(CACNA1D):c.2406+5G>A rs193270389 0.00017
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=) rs373851693 0.00014
NM_001128840.3(CACNA1D):c.132T>C (p.Asn44=) rs377363390 0.00011
NM_000720.4(CACNA1D):c.1504G>A (p.Ala502Thr) rs773409037 0.00010
NM_001128840.3(CACNA1D):c.1749C>T (p.Phe583=) rs565265907 0.00006
NM_001128840.3(CACNA1D):c.4926G>A (p.Ala1642=) rs568306347 0.00006
NM_001128840.3(CACNA1D):c.5643C>T (p.Pro1881=) rs189057793 0.00006
NM_001128840.3(CACNA1D):c.2221+14C>T rs373186365 0.00004
NM_001128840.3(CACNA1D):c.2721C>T (p.Asp907=) rs142208141 0.00004
NM_001128840.3(CACNA1D):c.5628C>T (p.Ile1876=) rs756947491 0.00004
NM_001128840.3(CACNA1D):c.5841G>A (p.Thr1947=) rs146425374 0.00004
NM_001128840.3(CACNA1D):c.4575G>A (p.Arg1525=) rs371203266 0.00003
NM_001128840.3(CACNA1D):c.2172A>G (p.Ser724=) rs767446461 0.00002
NM_001128840.3(CACNA1D):c.3198T>C (p.Asp1066=) rs1265964727 0.00002
NM_001128840.3(CACNA1D):c.4668G>A (p.Thr1556=) rs954096785 0.00002
NM_001128840.3(CACNA1D):c.2661C>T (p.Ile887=) rs1457329674 0.00001
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu) rs770886605 0.00001
NM_001128840.3(CACNA1D):c.6193-4A>G rs756630418 0.00001
NM_001128840.3(CACNA1D):c.6204C>T (p.Ser2068=) rs777264885 0.00001
NM_001128840.3(CACNA1D):c.6414C>T (p.Ser2138=) rs748761511 0.00001
NM_001128840.3(CACNA1D):c.649T>C (p.Leu217=) rs1263485007 0.00001
NM_001128840.3(CACNA1D):c.1956G>T (p.Ser652=) rs746739986
NM_001128840.3(CACNA1D):c.2277A>G (p.Glu759=) rs770074186
NM_001128840.3(CACNA1D):c.450T>C (p.Pro150=) rs876657433
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=) rs776968811
NM_001128840.3(CACNA1D):c.5940G>C (p.Ser1980=) rs767458712
NM_001128840.3(CACNA1D):c.6162G>A (p.Lys2054=) rs876657434

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