ClinVar Miner

List of variants in gene CASQ1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001231.5(CASQ1):c.260T>C (p.Met87Thr) rs150330307 0.01927
NM_001231.5(CASQ1):c.419A>T (p.Tyr140Phe) rs34489853 0.01910
NM_001231.5(CASQ1):c.652-15C>T rs3818952 0.01486
NM_001231.5(CASQ1):c.215A>G (p.His72Arg) rs74123281 0.01398
NM_001231.5(CASQ1):c.27C>A (p.Pro9=) rs76394704 0.00813
NM_001231.5(CASQ1):c.237G>A (p.Lys79=) rs74123282 0.00672
NM_001231.5(CASQ1):c.364+9G>T rs115023646 0.00505
NM_001231.5(CASQ1):c.447C>T (p.Ile149=) rs138196284 0.00181
NM_001231.5(CASQ1):c.130G>A (p.Asp44Asn) rs140253806 0.00175
NM_001231.5(CASQ1):c.828+16C>T rs184029311 0.00120
NM_001231.5(CASQ1):c.782+19C>G rs140657279 0.00099
NM_001231.5(CASQ1):c.1060-17C>A rs41265775 0.00084
NM_001231.5(CASQ1):c.516G>A (p.Ala172=) rs55804336 0.00054
NM_001231.5(CASQ1):c.280-20A>G rs369696933 0.00039
NM_001231.5(CASQ1):c.744C>T (p.Ser248=) rs371888819 0.00017
NM_001231.5(CASQ1):c.491T>C (p.Ile164Thr) rs34415446 0.00014
NM_001231.5(CASQ1):c.978C>T (p.Phe326=) rs202246443 0.00011
NM_001231.5(CASQ1):c.444C>T (p.Thr148=) rs567865054 0.00002
NM_001231.5(CASQ1):c.1049A>G (p.Asn350Ser) rs376318550 0.00001
NM_001231.5(CASQ1):c.129C>T (p.Tyr43=) rs543422219 0.00001
NM_001231.5(CASQ1):c.829-19C>T rs539896461 0.00001
NM_001231.5(CASQ1):c.1008G>A (p.Thr336=)
NM_001231.5(CASQ1):c.279+12dup
NM_001231.5(CASQ1):c.365-31_365-7del rs554168380
NM_001231.5(CASQ1):c.39G>A (p.Pro13=) rs368288907
NM_001231.5(CASQ1):c.578-5C>G rs78149381
NM_001231.5(CASQ1):c.652-17T>A

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