ClinVar Miner

List of variants studied for Fanconi anemia, complementation group S by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter) rs397508838 0.00001
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935 0.00001
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter) rs80357346
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter) rs1555589094
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175

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