ClinVar Miner

List of variants in gene BRCA1 reported as uncertain significance by Baylor Genetics

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Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn) rs55975699 0.00011
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00008
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala) rs80357451 0.00002
NM_007294.4(BRCA1):c.5528C>T (p.Ala1843Val) rs730881447 0.00002
NM_007294.4(BRCA1):c.16C>T (p.Leu6Phe) rs1315262605 0.00001
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met) rs80357209 0.00001
NM_007294.4(BRCA1):c.301+6T>C rs753859240 0.00001
NM_007294.4(BRCA1):c.302A>G (p.Tyr101Cys) rs587781798 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.43A>C (p.Ile15Leu) rs80357031 0.00001
NM_007294.4(BRCA1):c.442-1G>T rs1351019392 0.00001
NM_007294.4(BRCA1):c.4534A>T (p.Ser1512Cys) rs80357137 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.4843G>A (p.Ala1615Thr) rs80356987 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.5129G>A (p.Gly1710Glu) rs398122691 0.00001
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu) rs398122695 0.00001
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041 0.00001
NM_007294.4(BRCA1):c.5349G>A (p.Met1783Ile) rs587782019 0.00001
NM_007294.4(BRCA1):c.535T>C (p.Tyr179His) rs587781761 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_007294.4(BRCA1):c.5501C>T (p.Thr1834Ile) rs730881500 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.134+4A>T rs1555599189
NM_007294.4(BRCA1):c.135A>T (p.Lys45Asn) rs80356883
NM_007294.4(BRCA1):c.151C>T (p.Leu51Phe) rs2054790774
NM_007294.4(BRCA1):c.154C>A (p.Leu52Ile) rs80357084
NM_007294.4(BRCA1):c.161A>G (p.Gln54Arg) rs397507189
NM_007294.4(BRCA1):c.1676G>A (p.Gly559Asp) rs80356980
NM_007294.4(BRCA1):c.176C>T (p.Ser59Leu) rs199522616
NM_007294.4(BRCA1):c.189A>T (p.Leu63Phe) rs80356956
NM_007294.4(BRCA1):c.2816T>C (p.Val939Ala) rs1555588894
NM_007294.4(BRCA1):c.302-8T>G rs878854942
NM_007294.4(BRCA1):c.308A>G (p.Asn103Ser)
NM_007294.4(BRCA1):c.327_329del (p.Lys110del)
NM_007294.4(BRCA1):c.339C>G (p.Asn113Lys) rs587779367
NM_007294.4(BRCA1):c.341C>G (p.Ser114Cys) rs786202620
NM_007294.4(BRCA1):c.34C>A (p.Gln12Lys) rs80357134
NM_007294.4(BRCA1):c.381T>G (p.Ser127Arg) rs945168715
NM_007294.4(BRCA1):c.4115G>T (p.Cys1372Phe)
NM_007294.4(BRCA1):c.4218G>T (p.Lys1406Asn) rs1800707
NM_007294.4(BRCA1):c.4247C>G (p.Ala1416Gly) rs1597848252
NM_007294.4(BRCA1):c.4273C>T (p.Pro1425Ser) rs768327850
NM_007294.4(BRCA1):c.433C>A (p.Pro145Thr) rs2054618097
NM_007294.4(BRCA1):c.4353A>T (p.Glu1451Asp)
NM_007294.4(BRCA1):c.4357+5G>A rs1555583976
NM_007294.4(BRCA1):c.4358-3A>G rs1567779966
NM_007294.4(BRCA1):c.4359A>C (p.Ala1453=)
NM_007294.4(BRCA1):c.4390C>A (p.Pro1464Thr) rs1259139517
NM_007294.4(BRCA1):c.4639T>G (p.Leu1547Val) rs730881492
NM_007294.4(BRCA1):c.4672C>G (p.Leu1558Val) rs1555581794
NM_007294.4(BRCA1):c.4733A>G (p.Asp1578Gly) rs80356930
NM_007294.4(BRCA1):c.4807_4821del (p.Pro1603_Val1607del) rs80359888
NM_007294.4(BRCA1):c.4811A>G (p.Gln1604Arg) rs80357439
NM_007294.4(BRCA1):c.4849G>A (p.Ala1617Thr)
NM_007294.4(BRCA1):c.4852C>T (p.His1618Tyr) rs755920262
NM_007294.4(BRCA1):c.4864A>G (p.Thr1622Ala) rs786202026
NM_007294.4(BRCA1):c.489A>T (p.Arg163Ser)
NM_007294.4(BRCA1):c.48T>A (p.Asn16Lys) rs1555600963
NM_007294.4(BRCA1):c.4942A>G (p.Lys1648Glu) rs747694453
NM_007294.4(BRCA1):c.4978GAA[1] (p.Glu1661del) rs1597830200
NM_007294.4(BRCA1):c.49_50delinsTG (p.Ala17Cys)
NM_007294.4(BRCA1):c.5010A>T (p.Arg1670Ser) rs777828258
NM_007294.4(BRCA1):c.5036T>C (p.Leu1679Pro) rs760038328
NM_007294.4(BRCA1):c.5041A>C (p.Thr1681Pro) rs876659314
NM_007294.4(BRCA1):c.5051C>G (p.Thr1684Ser) rs2052164896
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala) rs397509219
NM_007294.4(BRCA1):c.5075A>T (p.Asp1692Val) rs397509222
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro) rs41293459
NM_007294.4(BRCA1):c.50C>G (p.Ala17Gly) rs1412871417
NM_007294.4(BRCA1):c.5110T>C (p.Phe1704Leu) rs1555578599
NM_007294.4(BRCA1):c.5120T>G (p.Ile1707Ser) rs1064796143
NM_007294.4(BRCA1):c.5152+4A>G rs397509232
NM_007294.4(BRCA1):c.5155G>T (p.Val1719Leu) rs749465132
NM_007294.4(BRCA1):c.5161C>G (p.Gln1721Glu) rs878854957
NM_007294.4(BRCA1):c.5186T>A (p.Leu1729Gln) rs730881496
NM_007294.4(BRCA1):c.5309G>C (p.Gly1770Ala) rs863224765
NM_007294.4(BRCA1):c.5332+455G>C
NM_007294.4(BRCA1):c.5422G>T (p.Val1808Leu) rs1555574756
NM_007294.4(BRCA1):c.5423T>C (p.Val1808Ala) rs80357358
NM_007294.4(BRCA1):c.5425G>A (p.Val1809Ile) rs28897698
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val) rs587782026
NM_007294.4(BRCA1):c.548-9A>G rs80358052
NM_007294.4(BRCA1):c.5504G>C (p.Arg1835Pro) rs273902776
NM_007294.4(BRCA1):c.553G>A (p.Asp185Asn)
NM_007294.4(BRCA1):c.5565_5573del (p.Gln1857_Pro1859del) rs397507253
NM_007294.4(BRCA1):c.5578dup (p.His1860fs) rs397507254
NM_007294.4(BRCA1):c.5587T>G (p.Tyr1863Asp) rs763740623
NM_007294.4(BRCA1):c.664A>G (p.Lys222Glu)
NM_007294.4(BRCA1):c.752_766del (p.Lys251_Glu255del) rs2154493642

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