ClinVar Miner

List of variants in gene CAPN1 reported as pathogenic for not provided

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005186.4(CAPN1):c.267+2T>C rs199559271 0.00024
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00012
NM_005186.4(CAPN1):c.618_619del (p.Gly208fs) rs778722037 0.00003
NM_005186.4(CAPN1):c.1176G>A (p.Trp392Ter) rs756830713 0.00001
NM_005186.4(CAPN1):c.1534C>T (p.Arg512Cys) rs753019478 0.00001
NM_005186.4(CAPN1):c.843+1G>C rs781683198 0.00001
NM_005186.4(CAPN1):c.1142C>T (p.Ala381Val)
NM_005186.4(CAPN1):c.147C>A (p.Cys49Ter)
NM_005186.4(CAPN1):c.1567G>T (p.Glu523Ter)
NM_005186.4(CAPN1):c.188dup (p.Val64fs) rs758312955
NM_005186.4(CAPN1):c.414_415insTATGCGGAACCATAGCTT (p.Gln139delinsTyrAlaGluProTer) rs1948582304
NM_005186.4(CAPN1):c.415C>T (p.Gln139Ter)
NM_005186.4(CAPN1):c.416_417insTA (p.Gln139fs) rs1948582433
NM_005186.4(CAPN1):c.417_418insCTTCAT (p.Gln139_Ser140insLeuHis) rs1948582497
NM_005186.4(CAPN1):c.616_620del (p.Ser206fs) rs1948630635
NM_005186.4(CAPN1):c.671G>A (p.Trp224Ter) rs2137318717
NM_005186.4(CAPN1):c.759+1G>A rs1421591415
NM_005186.4(CAPN1):c.759+1G>T rs1421591415
NM_005186.4(CAPN1):c.853C>T (p.Arg285Ter) rs1033093801
NM_005186.4(CAPN1):c.894G>A (p.Trp298Ter)
NM_005186.4(CAPN1):c.910_926dup (p.Asp309fs)
NM_005186.4(CAPN1):c.920G>A (p.Trp307Ter)

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