ClinVar Miner

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

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Total variants: 24
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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.2853C>T (p.Cys951=) rs147169370 0.00017
NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=) rs193196995 0.00014
NM_001128840.3(CACNA1D):c.5255C>T (p.Thr1752Ile) rs201147414 0.00001
NM_001128840.3(CACNA1D):c.6193-11T>C rs369194462 0.00001
NM_001128840.3(CACNA1D):c.6393G>A (p.Gln2131=) rs200001131 0.00001
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363

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