ClinVar Miner

List of variants reported by Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS)

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_018897.3(DNAH7):c.11947C>T (p.Arg3983Trp) rs114621989 0.00734
NM_017950.4(CCDC40):c.2620-92C>T rs569842522 0.00145
NM_001369.3(DNAH5):c.5882+133A>G rs530043272 0.00074
NM_001369.3(DNAH5):c.11570+124G>C rs543104462 0.00057
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_000397.4(CYBB):c.1103C>T (p.Ala368Val) rs781935760 0.00005
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) rs587778819 0.00004
NM_206996.4(SPAG17):c.4445G>T (p.Arg1482Leu) rs587783068 0.00003
NM_001481.3(GAS8):c.828C>G (p.Asn276Lys) rs587783067 0.00001
NM_004651.3(USP11):c.1599G>A (p.Thr533=) rs777516785 0.00001
NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser) rs770861172 0.00001
NM_001369.3(DNAH5):c.4530del (p.Asn1511fs) rs1554082275
NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter) rs773208371
NM_001370.2(DNAH6):c.3167A>T (p.Asp1056Val) rs587783066
NM_007179.3(INSL6):c.262_263del (p.Pro88fs) rs587783069
NM_017950.4(CCDC40):c.1989+1G>A rs745993158
NM_181426.2(CCDC39):c.2540A>G (p.Glu847Gly) rs587781264
NM_213607.3(CCDC103):c.104G>C (p.Arg35Pro) rs587783065
NM_213607.3(CCDC103):c.568_569dup (p.Ser190fs) rs746242380

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