ClinVar Miner

List of variants in gene BRCA1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00029
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe) rs369588942 0.00020
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075 0.00016
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00006
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013 0.00004
NM_007294.4(BRCA1):c.4251G>A (p.Val1417=) rs777057839 0.00003
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) rs786201784 0.00002
NM_007294.4(BRCA1):c.522A>G (p.Gln174=) rs765432756 0.00002
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr) rs80357159 0.00001
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=) rs1800064 0.00001
NM_007294.4(BRCA1):c.2963C>T (p.Ser988Leu) rs397507206 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=) rs786201224 0.00001
NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys) rs141255461 0.00001
NM_007294.4(BRCA1):c.1467G>A (p.Glu489=) rs794726997
NM_007294.4(BRCA1):c.1571C>T (p.Ala524Val) rs80357333
NM_007294.4(BRCA1):c.1880T>G (p.Val627Gly) rs770002293
NM_007294.4(BRCA1):c.2980T>C (p.Cys994Arg) rs144853230
NM_007294.4(BRCA1):c.389A>T (p.Tyr130Phe) rs56055578
NM_007294.4(BRCA1):c.4379G>A (p.Ser1460Asn) rs397509167
NM_007294.4(BRCA1):c.4392T>A (p.Pro1464=) rs794727102
NM_007294.4(BRCA1):c.439T>C (p.Leu147=) rs794727800
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.81-13C>G rs56328013

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