ClinVar Miner

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

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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_001128840.3(CACNA1D):c.1104T>C (p.Asp368=) rs2250736 0.64657
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.3954C>T (p.Phe1318=) rs17053501 0.04168
NM_001128840.3(CACNA1D):c.6051G>A (p.Pro2017=) rs34388124 0.02654
NM_001128840.3(CACNA1D):c.927A>G (p.Val309=) rs33970402 0.02106
NM_001128840.3(CACNA1D):c.4686C>T (p.Thr1562=) rs74534595 0.00921
NM_001128840.3(CACNA1D):c.6111A>G (p.Thr2037=) rs76868547 0.00762
NM_001128840.3(CACNA1D):c.1350G>A (p.Pro450=) rs35434249 0.00612
NM_001128840.3(CACNA1D):c.3870+13C>G rs148858045 0.00567
NM_001128840.3(CACNA1D):c.1220+700C>T rs117630105 0.00535
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.1407C>T (p.Ser469=) rs146730044 0.00234
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys) rs150838215 0.00143
NM_001128840.3(CACNA1D):c.3168-6C>G rs72556355 0.00118
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met) rs35090700 0.00107
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.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.2552T>G (p.Leu851Trp) rs186968009 0.00026
NM_001128840.3(CACNA1D):c.4977G>A (p.Ser1659=) rs150463212 0.00025
NM_001128840.3(CACNA1D):c.3821C>T (p.Ser1274Phe) rs200382504 0.00019
NM_001128840.3(CACNA1D):c.2406+5G>A rs193270389 0.00017
NM_001128840.3(CACNA1D):c.2853C>T (p.Cys951=) rs147169370 0.00017
NM_001128840.3(CACNA1D):c.1351G>C (p.Glu451Gln) rs200910800 0.00016
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=) rs373851693 0.00014
NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=) rs193196995 0.00014
NM_001128840.3(CACNA1D):c.1389T>G (p.Asn463Lys) rs150652713 0.00013
NM_001128840.3(CACNA1D):c.5417A>G (p.Tyr1806Cys) rs369626956 0.00012
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.3115-3C>T rs779910083 0.00010
NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr) rs759409255 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.2254G>A (p.Val752Ile) rs962492548 0.00005
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_000720.4(CACNA1D):c.1502C>T (p.Ala501Val) rs748425556 0.00003
NM_001128840.3(CACNA1D):c.1750G>A (p.Val584Ile) rs773365038 0.00003
NM_001128840.3(CACNA1D):c.4575G>A (p.Arg1525=) rs371203266 0.00003
NM_001128840.3(CACNA1D):c.6215G>A (p.Gly2072Glu) rs770605004 0.00003
NM_001128840.3(CACNA1D):c.2042C>T (p.Thr681Met) rs369605872 0.00002
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.3709A>G (p.Met1237Val) rs767083533 0.00002
NM_001128840.3(CACNA1D):c.4668G>A (p.Thr1556=) rs954096785 0.00002
NM_001128840.3(CACNA1D):c.5015G>A (p.Arg1672Gln) rs148898845 0.00002
NM_001128840.3(CACNA1D):c.6289G>A (p.Asp2097Asn) rs41276455 0.00002
NM_001128840.3(CACNA1D):c.1555G>A (p.Ala519Thr) rs138150805 0.00001
NM_001128840.3(CACNA1D):c.2261A>G (p.Asn754Ser) rs1316050748 0.00001
NM_001128840.3(CACNA1D):c.2661C>T (p.Ile887=) rs1457329674 0.00001
NM_001128840.3(CACNA1D):c.3748G>A (p.Val1250Ile) rs748437057 0.00001
NM_001128840.3(CACNA1D):c.3862G>A (p.Glu1288Lys) rs781171340 0.00001
NM_001128840.3(CACNA1D):c.5255C>T (p.Thr1752Ile) rs201147414 0.00001
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu) rs770886605 0.00001
NM_001128840.3(CACNA1D):c.6193-11T>C rs369194462 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.6373C>T (p.Arg2125Trp) rs373663753 0.00001
NM_001128840.3(CACNA1D):c.6393G>A (p.Gln2131=) rs200001131 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.1508G>A (p.Arg503Gln) rs941177114
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.2414T>C (p.Ile805Thr) rs147933585
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser) rs147146258
NM_001128840.3(CACNA1D):c.450T>C (p.Pro150=) rs876657433
NM_001128840.3(CACNA1D):c.4624G>C (p.Gly1542Arg) rs766813584
NM_001128840.3(CACNA1D):c.5408+4del rs1553687972
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
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.6044G>C (p.Ser2015Thr) rs766889110
NM_001128840.3(CACNA1D):c.6050C>T (p.Pro2017Leu) rs876657749
NM_001128840.3(CACNA1D):c.6162G>A (p.Lys2054=) rs876657434
NM_001128840.3(CACNA1D):c.74A>G (p.Asn25Ser) rs1415040812

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