ClinVar Miner

List of variants reported as benign for Hypertrophic cardiomyopathy 19 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_145046.5(CALR3):c.381G>A (p.Gln127=) rs3810198 0.66498
NM_145046.5(CALR3):c.972C>T (p.Tyr324=) rs9305079 0.65389
NM_145046.5(CALR3):c.702C>T (p.Asp234=) rs10403020 0.16282
NM_145046.5(CALR3):c.397+10C>T rs3810197 0.12536
NM_145046.5(CALR3):c.820G>A (p.Val274Ile) rs12459238 0.02701
NM_145046.5(CALR3):c.861G>A (p.Thr287=) rs118131979 0.01174
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) rs10404156 0.00473
NM_145046.5(CALR3):c.1012-9T>C rs144370982 0.00268
NM_145046.5(CALR3):c.483C>A (p.Ile161=) rs143158265 0.00190
NM_145046.5(CALR3):c.848C>T (p.Thr283Ile) rs75099211 0.00138
NM_145046.5(CALR3):c.398-6T>C rs376479901 0.00114
NM_145046.5(CALR3):c.125A>G (p.Asn42Ser) rs149634686 0.00113
NM_145046.5(CALR3):c.398-4G>A rs374008030 0.00040
NM_145046.5(CALR3):c.60C>G (p.Thr20=) rs370721650 0.00029
NM_145046.5(CALR3):c.194-13A>G rs186986407 0.00014
NM_145046.5(CALR3):c.243C>T (p.Phe81=) rs201321577 0.00014
NM_145046.5(CALR3):c.594C>T (p.Tyr198=) rs145046810 0.00004
NM_145046.5(CALR3):c.813T>C (p.His271=) rs531275904 0.00004
NM_145046.5(CALR3):c.1087C>T (p.Leu363=) rs199900092 0.00003
NM_145046.5(CALR3):c.493-6A>G rs566199743 0.00003
NM_145046.5(CALR3):c.96T>C (p.His32=) rs144355944 0.00001
NM_145046.5(CALR3):c.1067G>T (p.Arg356Leu) rs140290452
NM_145046.5(CALR3):c.787-14dup rs1267486642
NM_145046.5(CALR3):c.919-10del

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