ClinVar Miner

List of variants in gene BRCA1 reported as uncertain significance by Counsyl

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe) rs369588942 0.00020
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00017
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122 0.00014
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr) rs70953661 0.00011
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met) rs80357001 0.00007
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) rs587782770 0.00006
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00006
NM_007294.4(BRCA1):c.1802A>G (p.His601Arg) rs371631805 0.00006
NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val) rs80357353 0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646 0.00006
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) rs55678461 0.00005
NM_007294.4(BRCA1):c.-19-3A>G rs273898669 0.00004
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met) rs80357374 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu) rs55914168 0.00004
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr) rs80357328 0.00004
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp) rs80356899 0.00004
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013 0.00004
NM_007294.4(BRCA1):c.4358-2726A>G rs775348455 0.00004
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457 0.00004
NM_007294.4(BRCA1):c.4676-8C>G rs80358021 0.00004
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser) rs80357088 0.00004
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg) rs28897674 0.00003
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171 0.00003
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012 0.00003
NM_007294.4(BRCA1):c.671-8A>G rs80358144 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly) rs730881442 0.00002
NM_007294.4(BRCA1):c.1361G>A (p.Ser454Asn) rs80357181 0.00002
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys) rs397508902 0.00002
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895 0.00002
NM_007294.4(BRCA1):c.2008G>A (p.Glu670Lys) rs80357029 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met) rs80357169 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala) rs80357451 0.00002
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323 0.00002
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp) rs80357176 0.00002
NM_007294.4(BRCA1):c.*743G>T rs886052971 0.00001
NM_007294.4(BRCA1):c.*800T>C rs1555574136 0.00001
NM_007294.4(BRCA1):c.1030G>A (p.Ala344Thr) rs79727659 0.00001
NM_007294.4(BRCA1):c.1134C>A (p.Ser378Arg) rs863224752 0.00001
NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr) rs80356863 0.00001
NM_007294.4(BRCA1):c.135-18T>G rs80358085 0.00001
NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr) rs80357360 0.00001
NM_007294.4(BRCA1):c.1384G>A (p.Gly462Arg) rs80357221 0.00001
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030 0.00001
NM_007294.4(BRCA1):c.1508A>G (p.Lys503Arg) rs62625304 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp) rs398122639 0.00001
NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr) rs80357159 0.00001
NM_007294.4(BRCA1):c.1713A>G (p.Ile571Met) rs552505690 0.00001
NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser) rs80356902 0.00001
NM_007294.4(BRCA1):c.1922T>C (p.Ile641Thr) rs730881474 0.00001
NM_007294.4(BRCA1):c.2183G>A (p.Arg728Lys) rs80357335 0.00001
NM_007294.4(BRCA1):c.2222C>G (p.Ser741Cys) rs80357051 0.00001
NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser) rs80356884 0.00001
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met) rs80357209 0.00001
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) rs80356948 0.00001
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu) rs876660005 0.00001
NM_007294.4(BRCA1):c.2425G>A (p.Glu809Lys) rs786204151 0.00001
NM_007294.4(BRCA1):c.2551G>A (p.Glu851Lys) rs398122662 0.00001
NM_007294.4(BRCA1):c.259T>G (p.Leu87Val) rs80357091 0.00001
NM_007294.4(BRCA1):c.2747A>T (p.Asn916Ile) rs864622588 0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361 0.00001
NM_007294.4(BRCA1):c.290C>G (p.Thr97Arg) rs431825393 0.00001
NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn) rs431825394 0.00001
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val) rs80357311 0.00001
NM_007294.4(BRCA1):c.380G>A (p.Ser127Asn) rs80357189 0.00001
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys) rs80357457 0.00001
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg) rs80356986 0.00001
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648 0.00001
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486 0.00001
NM_007294.4(BRCA1):c.4361T>C (p.Val1454Ala) rs587782606 0.00001
NM_007294.4(BRCA1):c.43A>C (p.Ile15Leu) rs80357031 0.00001
NM_007294.4(BRCA1):c.4417T>C (p.Ser1473Pro) rs398122686 0.00001
NM_007294.4(BRCA1):c.4485-8C>T rs397507234 0.00001
NM_007294.4(BRCA1):c.4643C>T (p.Thr1548Met) rs273900737 0.00001
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile) rs80357076 0.00001
NM_007294.4(BRCA1):c.470C>G (p.Ser157Cys) rs80357045 0.00001
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943 0.00001
NM_007294.4(BRCA1):c.484G>C (p.Val162Leu) rs55816927 0.00001
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys) rs200432771 0.00001
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr) rs80357061 0.00001
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp) rs80357325 0.00001
NM_007294.4(BRCA1):c.5317A>T (p.Thr1773Ser) rs80357324 0.00001
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu) rs398122695 0.00001
NM_007294.4(BRCA1):c.5332+3A>G rs766614917 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_007294.4(BRCA1):c.548-3T>C rs397507252 0.00001
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln) rs273902776 0.00001
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr) rs755427809 0.00001
NM_007294.4(BRCA1):c.593+9A>G rs80358133 0.00001
NM_007294.4(BRCA1):c.655G>A (p.Asp219Asn) rs273902779 0.00001
NM_007294.4(BRCA1):c.734A>T (p.Asp245Val) rs80356865 0.00001
NM_007294.4(BRCA1):c.755G>A (p.Arg252His) rs80357138 0.00001
NM_007294.4(BRCA1):c.788G>A (p.Gly263Asp) rs397509319 0.00001
NM_007294.4(BRCA1):c.81-17C>G rs757442952 0.00001
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln) rs80357464 0.00001
NM_007294.4(BRCA1):c.-19-1G>A rs569074958
NM_007294.4(BRCA1):c.1033G>T (p.Asp345Tyr) rs80356961
NM_007294.4(BRCA1):c.1075C>T (p.Pro359Ser) rs767666190
NM_007294.4(BRCA1):c.1131C>A (p.Ser377Arg) rs786203434
NM_007294.4(BRCA1):c.11C>T (p.Ser4Phe) rs786203152
NM_007294.4(BRCA1):c.1202G>A (p.Gly401Glu) rs397507184
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser) rs80357113
NM_007294.4(BRCA1):c.1379T>G (p.Ile460Arg) rs398122634
NM_007294.4(BRCA1):c.1396C>G (p.Arg466Gly) rs80356964
NM_007294.4(BRCA1):c.1418A>T (p.Asn473Ile) rs80357057
NM_007294.4(BRCA1):c.1534C>G (p.Leu512Val) rs41286294
NM_007294.4(BRCA1):c.1571C>T (p.Ala524Val) rs80357333
NM_007294.4(BRCA1):c.1834A>G (p.Arg612Gly) rs80357245
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala) rs45564238
NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly) rs80357105
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.4(BRCA1):c.2090T>C (p.Phe697Ser) rs730881476
NM_007294.4(BRCA1):c.2102A>G (p.Lys701Arg) rs876658307
NM_007294.4(BRCA1):c.2123C>T (p.Ser708Phe) rs80357182
NM_007294.4(BRCA1):c.2218G>T (p.Val740Leu) rs80357415
NM_007294.4(BRCA1):c.2222C>T (p.Ser741Phe) rs80357051
NM_007294.4(BRCA1):c.2239C>T (p.Pro747Ser) rs1555590087
NM_007294.4(BRCA1):c.2296A>G (p.Ser766Gly) rs398122655
NM_007294.4(BRCA1):c.230C>G (p.Thr77Arg) rs80357209
NM_007294.4(BRCA1):c.2397T>A (p.Asn799Lys) rs80357203
NM_007294.4(BRCA1):c.2518A>T (p.Ser840Cys) rs377475866
NM_007294.4(BRCA1):c.2534T>C (p.Ile845Thr) rs397508976
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.4(BRCA1):c.2702T>C (p.Phe901Ser) rs397507202
NM_007294.4(BRCA1):c.2922A>C (p.Leu974Phe) rs730881487
NM_007294.4(BRCA1):c.2967T>A (p.Phe989Leu) rs876659270
NM_007294.4(BRCA1):c.3048T>G (p.Asn1016Lys) rs879255482
NM_007294.4(BRCA1):c.3065C>T (p.Thr1022Ile) rs786202070
NM_007294.4(BRCA1):c.338A>G (p.Asn113Ser) rs587780800
NM_007294.4(BRCA1):c.401_403dup (p.Ala134_Lys135insThr) rs1555596338
NM_007294.4(BRCA1):c.4159T>C (p.Ser1387Pro) rs876658221
NM_007294.4(BRCA1):c.4185+11TG[7] rs273900723
NM_007294.4(BRCA1):c.4697C>A (p.Ser1566Tyr) rs1060502325
NM_007294.4(BRCA1):c.4807_4821del (p.Pro1603_Val1607del) rs80359888
NM_007294.4(BRCA1):c.4833_4847del (p.Gln1612_Ala1616del) rs1555580795
NM_007294.4(BRCA1):c.4884G>T (p.Met1628Ile) rs80357158
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser) rs80357373
NM_007294.4(BRCA1):c.4988T>A (p.Met1663Lys) rs80357205
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala) rs397509219
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5152+6T>C rs80358074
NM_007294.4(BRCA1):c.5186T>A (p.Leu1729Gln) rs730881496
NM_007294.4(BRCA1):c.5260G>C (p.Glu1754Gln) rs80357432
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.4(BRCA1):c.5285G>T (p.Arg1762Met) rs398122694
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg) rs80357474
NM_007294.4(BRCA1):c.5350G>A (p.Val1784Ile) rs1060502328
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser) rs80357078
NM_007294.4(BRCA1):c.5383C>T (p.Leu1795Phe) rs878854958
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_007294.4(BRCA1):c.5565_5573del (p.Gln1857_Pro1859del) rs397507253
NM_007294.4(BRCA1):c.556T>G (p.Ser186Ala) rs397509298
NM_007294.4(BRCA1):c.557C>T (p.Ser186Phe) rs55688530
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr) rs431825419
NM_007294.4(BRCA1):c.671-18_671-16del rs398122354
NM_007294.4(BRCA1):c.695A>T (p.Asp232Val) rs398122708
NM_007294.4(BRCA1):c.716A>T (p.His239Leu) rs80357396
NM_007294.4(BRCA1):c.742A>C (p.Thr248Pro) rs879255288
NM_007294.4(BRCA1):c.754C>T (p.Arg252Cys) rs273902786
NM_007294.4(BRCA1):c.889A>C (p.Met297Leu) rs80357196
NM_007294.4(BRCA1):c.889A>G (p.Met297Val) rs80357196
NM_007294.4(BRCA1):c.890T>A (p.Met297Lys) rs80356924
NM_007294.4(BRCA1):c.964G>A (p.Ala322Thr) rs80357252

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