ClinVar Miner

List of variants studied for Fanconi anemia, complementation group S

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 128
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
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.3608G>A (p.Arg1203Gln) rs55930959 0.00006
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.*1271T>C rs1555574034 0.00001
NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter) rs397508838 0.00001
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=) rs786201323 0.00001
NM_007294.4(BRCA1):c.1711A>G (p.Ile571Val) rs1310719199 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.1920A>T (p.Gln640His) rs587782843 0.00001
NM_007294.4(BRCA1):c.206C>T (p.Thr69Ile) rs273898675 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.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.3587C>T (p.Thr1196Ile) rs80356944 0.00001
NM_007294.4(BRCA1):c.3612A>G (p.Arg1204=) rs537737635 0.00001
NM_007294.4(BRCA1):c.3716C>T (p.Ser1239Phe) rs2154292840 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.4999A>G (p.Lys1667Glu) rs80357204 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5186T>A (p.Leu1729Gln) rs730881496 0.00001
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935 0.00001
NM_007294.4(BRCA1):c.5289G>C (p.Gly1763=) rs1022076404 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_007294.4(BRCA1):c.837T>C (p.His279=) rs775477245 0.00001
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772 0.00001
NM_001408458.1(BRCA1):c.-61-9703_-61-8238del
NM_007294.4(BRCA1):c.*528G>C rs1060504556
NM_007294.4(BRCA1):c.*58C>T rs137892861
NM_007294.4(BRCA1):c.-19-2A>G rs886040902
NM_007294.4(BRCA1):c.107C>A (p.Ser36Tyr) rs183557525
NM_007294.4(BRCA1):c.1104_1108dup (p.Val370fs) rs2154475632
NM_007294.4(BRCA1):c.1152G>A (p.Glu384=) rs1057523704
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.1252G>T (p.Glu418Ter) rs80357083
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter) rs80357346
NM_007294.4(BRCA1):c.1398G>A (p.Arg466=) rs1060504571
NM_007294.4(BRCA1):c.13G>A (p.Ala5Thr) rs1597923713
NM_007294.4(BRCA1):c.1410_1416delinsTTGGGG (p.Leu471fs)
NM_007294.4(BRCA1):c.1518G>C (p.Arg506Ser)
NM_007294.4(BRCA1):c.1612_1616del (p.Gln538fs) rs587776480
NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter) rs80357471
NM_007294.4(BRCA1):c.182G>T (p.Cys61Phe) rs80357093
NM_007294.4(BRCA1):c.1912G>T (p.Glu638Ter) rs80357005
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.2082_2803delinsTT (p.Asp695_Lys935delinsTer)
NM_007294.4(BRCA1):c.2213_2214dup (p.Lys739fs) rs80357574
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter) rs80357574
NM_007294.4(BRCA1):c.2398_2401del (p.Lys800fs) rs786202684
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs) rs80357706
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.2436_2439del (p.Lys812fs)
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2666_2667del (p.Ser889fs)
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.2876_2877delinsTG (p.Arg959Met)
NM_007294.4(BRCA1):c.2901_2902dup (p.Pro968fs) rs398122670
NM_007294.4(BRCA1):c.2960_2964del (p.Lys987fs) rs1555588625
NM_007294.4(BRCA1):c.3111_3118del (p.Glu1038fs)
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.3595G>A (p.Ala1199Thr)
NM_007294.4(BRCA1):c.3706_3713del (p.Asn1236fs) rs80357552
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.4048G>A (p.Gly1350Ser) rs748674194
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.4391_4393delinsTT (p.Pro1464fs) rs273900730
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
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.4834C>T (p.Gln1612Ter) rs786202064
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.5095C>A (p.Arg1699=) rs55770810
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) rs876660071
NM_007294.4(BRCA1):c.510G>C (p.Arg170=)
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.5153-79_5193+1del
NM_007294.4(BRCA1):c.5193+1G>C rs80358004
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.5252G>C (p.Arg1751Pro) rs80357442
NM_007294.4(BRCA1):c.5293G>A (p.Glu1765Lys) rs397509256
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
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.5558_5561del (p.Thr1852_Tyr1853insTer)
NM_007294.4(BRCA1):c.5562G>A (p.Leu1854=) rs786201648
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.594_597delTGTG rs797045175
NM_007294.4(BRCA1):c.686C>A (p.Ser229Tyr)
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.695A>T (p.Asp232Val) rs398122708
NM_007294.4(BRCA1):c.703_4185+1del
NM_007294.4(BRCA1):c.800C>G (p.Ser267Ter) rs80357392
NM_007294.4(BRCA1):c.815A>G (p.Glu272Gly)
NM_007294.4(BRCA1):c.91A>G (p.Ile31Val) rs1597912041
NM_007294.4(BRCA1):c.948C>G (p.Ser316Arg) rs1555592782
NM_007294.4(BRCA1):c.988G>A (p.Asp330Asn) rs397507259

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.