List of variants reported as pathogenic for Fanconi anemia, complementation group S

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Total variants: 11

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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.1292T>G (p.Leu431Ter)	rs80357346
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)	rs80357522
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)	rs80357688
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)	rs80357669
NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter)	rs1555589094
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)	rs80356978
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)	rs80357819
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	rs55770810
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)	rs45553935
NM_007294.4(BRCA1):c.594_597delTGTG	rs797045175

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