ClinVar Miner

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

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_007294.4(BRCA1):c.1711A>G (p.Ile571Val) rs1310719199 0.00001
NM_007294.4(BRCA1):c.1920A>T (p.Gln640His) rs587782843 0.00001
NM_007294.4(BRCA1):c.206C>T (p.Thr69Ile) rs273898675 0.00001
NM_007294.4(BRCA1):c.2980T>C (p.Cys994Arg) rs144853230 0.00001
NM_007294.4(BRCA1):c.2981G>A (p.Cys994Tyr) rs1238452758 0.00001
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049 0.00001
NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser) rs80356900 0.00001
NM_007294.4(BRCA1):c.3716C>T (p.Ser1239Phe) rs2154292840 0.00001
NM_007294.4(BRCA1):c.4999A>G (p.Lys1667Glu) rs80357204 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_007294.4(BRCA1):c.5186T>A (p.Leu1729Gln) rs730881496 0.00001
NM_007294.4(BRCA1):c.5317A>T (p.Thr1773Ser) rs80357324 0.00001
NM_007294.4(BRCA1):c.5481G>A (p.Met1827Ile) rs587782432 0.00001
NM_001408458.1(BRCA1):c.-61-9703_-61-8238del
NM_007294.4(BRCA1):c.107C>A (p.Ser36Tyr) rs183557525
NM_007294.4(BRCA1):c.1152G>A (p.Glu384=) rs1057523704
NM_007294.4(BRCA1):c.13G>A (p.Ala5Thr) rs1597923713
NM_007294.4(BRCA1):c.1518G>C (p.Arg506Ser)
NM_007294.4(BRCA1):c.182G>T (p.Cys61Phe) rs80357093
NM_007294.4(BRCA1):c.2412_2819dup (p.Val939_Asp940insGluCysAlaAlaPheGluAsnProLysGlyLeuIleHisGlyCysSerLysAspAsnArgAsnAspThrGluGlyPheLysTyrProLeuGlyHisGluValAsnHisSerArgGluThrSerIleGluMetGluGluSerGluLeuAspAlaGlnTyrLeuGlnAsnThrPheLysValSerLysArgGlnSerPheAlaProPheSerAsnProGlyAsnAlaGluGluGluCysAlaThrPheSerAlaHisSerGlySerLeuLysLysGlnSerProLysValThrPheGluCysGluGlnLysGluGluAsnGlnGlyLysAsnGluSerAsnIleLysProValGlnThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProVal)
NM_007294.4(BRCA1):c.2419G>T (p.Ala807Ser) rs80357240
NM_007294.4(BRCA1):c.2876_2877delinsTG (p.Arg959Met)
NM_007294.4(BRCA1):c.3595G>A (p.Ala1199Thr)
NM_007294.4(BRCA1):c.3722C>T (p.Ser1241Phe)
NM_007294.4(BRCA1):c.3769GAG[1] (p.Glu1258del) rs1057517536
NM_007294.4(BRCA1):c.3857G>T (p.Ser1286Ile) rs142383077
NM_007294.4(BRCA1):c.4286A>G (p.Tyr1429Cys) rs876659228
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4741G>C (p.Glu1581Gln) rs397509193
NM_007294.4(BRCA1):c.4781C>T (p.Pro1594Leu) rs1301724072
NM_007294.4(BRCA1):c.4919C>T (p.Thr1640Ile) rs1036328075
NM_007294.4(BRCA1):c.5073A>G (p.Thr1691=) rs80356853
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) rs876660071
NM_007294.4(BRCA1):c.5122G>A (p.Ala1708Thr) rs397507243
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5197G>A (p.Asp1733Asn) rs398122693
NM_007294.4(BRCA1):c.5236C>A (p.His1746Asn) rs80357146
NM_007294.4(BRCA1):c.5293G>A (p.Glu1765Lys) rs397509256
NM_007294.4(BRCA1):c.5464C>T (p.His1822Tyr) rs2050976551
NM_007294.4(BRCA1):c.5521A>G (p.Ser1841Gly) rs80357299
NM_007294.4(BRCA1):c.5551G>A (p.Asp1851Asn) rs2050862880
NM_007294.4(BRCA1):c.5571_5579del (p.Gln1857_Pro1859del) rs775417240
NM_007294.4(BRCA1):c.5578dup (p.His1860fs) rs397507254
NM_007294.4(BRCA1):c.695A>T (p.Asp232Val) rs398122708
NM_007294.4(BRCA1):c.815A>G (p.Glu272Gly)
NM_007294.4(BRCA1):c.91A>G (p.Ile31Val) rs1597912041
NM_007294.4(BRCA1):c.988G>A (p.Asp330Asn) rs397507259

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