ClinVar Miner

List of variants reported for not provided by Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS)

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Total variants: 5
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HGVS dbSNP gnomAD frequency
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_001370.2(DNAH6):c.3167A>T (p.Asp1056Val) rs587783066
NM_007179.3(INSL6):c.262_263del (p.Pro88fs) rs587783069
NM_213607.3(CCDC103):c.104G>C (p.Arg35Pro) rs587783065

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