ClinVar Miner

List of variants studied for Primary dilated cardiomyopathy by Cohesion Phenomics

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077 0.74536
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.22862
NM_001134363.3(RBM20):c.1527+8C>T rs7077757 0.21586
NM_001134363.3(RBM20):c.90G>A (p.Arg30=) rs35141404 0.20903
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.17703
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16844
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=) rs13324293 0.06728
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04041
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000335.5(SCN5A):c.2263-18T>C rs9835588 0.02043
NM_000335.5(SCN5A):c.482+16G>C rs41312949 0.01777
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_001134363.3(RBM20):c.150A>T (p.Pro50=) rs376936285 0.00244

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