ClinVar Miner

List of variants reported as likely benign for Fanconi anemia, complementation group S by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00018
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu) rs41293451 0.00013
NM_007294.4(BRCA1):c.1242C>T (p.Asp414=) rs372400428 0.00005
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00005
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys) rs80357407 0.00004
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457 0.00004
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr) rs80357182 0.00003
NM_007294.4(BRCA1):c.3822A>C (p.Val1274=) rs372396487 0.00003
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171 0.00003
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe) rs80357394 0.00003
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=) rs786201323 0.00001
NM_007294.4(BRCA1):c.1873C>T (p.Leu625=) rs769044421 0.00001
NM_007294.4(BRCA1):c.1878A>G (p.Val626=) rs8176154 0.00001
NM_007294.4(BRCA1):c.2623C>G (p.Pro875Ala) rs866257451 0.00001
NM_007294.4(BRCA1):c.2935C>T (p.Arg979Cys) rs80356970 0.00001
NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile) rs80356944 0.00001
NM_007294.4(BRCA1):c.3612A>G (p.Arg1204=) rs537737635 0.00001
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909 0.00001
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys) rs80357002 0.00001
NM_007294.4(BRCA1):c.5289G>C (p.Gly1763=) rs1022076404 0.00001
NM_007294.4(BRCA1):c.837T>C (p.His279=) rs775477245 0.00001
NM_007294.4(BRCA1):c.1398G>A (p.Arg466=) rs1060504571
NM_007294.4(BRCA1):c.2082_2803delinsTT (p.Asp695_Lys935delinsTer)
NM_007294.4(BRCA1):c.3429T>G (p.Ser1143=)
NM_007294.4(BRCA1):c.3435T>C (p.Val1145=) rs786201222
NM_007294.4(BRCA1):c.3479A>C (p.Lys1160Thr) rs1597863410
NM_007294.4(BRCA1):c.4048G>A (p.Gly1350Ser) rs748674194
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) rs55770810
NM_007294.4(BRCA1):c.510G>C (p.Arg170=)
NM_007294.4(BRCA1):c.5562G>A (p.Leu1854=) rs786201648
NM_007294.4(BRCA1):c.686C>A (p.Ser229Tyr)
NM_007294.4(BRCA1):c.948C>G (p.Ser316Arg) rs1555592782

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