ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 19 by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_145046.5(CALR3):c.820G>A (p.Val274Ile) rs12459238 0.02701
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) rs10404156 0.00473
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.245A>G (p.Lys82Arg) rs142951029 0.00083
NM_145046.5(CALR3):c.60C>G (p.Thr20=) rs370721650 0.00029
NM_145046.5(CALR3):c.564del (p.Gln189fs) rs747656642 0.00012
NM_145046.5(CALR3):c.1067G>T (p.Arg356Leu) rs140290452

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