ClinVar Miner

List of variants in gene BRCA1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00008
NM_007294.4(BRCA1):c.1881C>G (p.Val627=) rs80356838 0.00003
NM_007294.4(BRCA1):c.1015A>G (p.Lys339Glu) rs55842957 0.00001
NM_007294.4(BRCA1):c.1270G>A (p.Gly424Ser) rs763051683 0.00001
NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr) rs80356859 0.00001
NM_007294.4(BRCA1):c.2183G>A (p.Arg728Lys) rs80357335 0.00001
NM_007294.4(BRCA1):c.2281G>C (p.Glu761Gln) rs397507198 0.00001
NM_007294.4(BRCA1):c.*1337TGT[1] rs1281551853
NM_007294.4(BRCA1):c.1291T>A (p.Leu431Ile) rs960381964
NM_007294.4(BRCA1):c.1310A>T (p.His437Leu) rs80357255
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.4(BRCA1):c.1528T>G (p.Ser510Ala) rs777916645
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del) rs587781614
NM_007294.4(BRCA1):c.185C>T (p.Pro62Leu) rs786202286
NM_007294.4(BRCA1):c.2045A>G (p.Asn682Ser)
NM_007294.4(BRCA1):c.2075A>C (p.His692Pro) rs2053831947
NM_007294.4(BRCA1):c.2222C>T (p.Ser741Phe) rs80357051
NM_007294.4(BRCA1):c.2501G>A (p.Gly834Glu) rs757383244
NM_007294.4(BRCA1):c.252_254del (p.Glu85del) rs1064797221
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala) rs16941
NM_007294.4(BRCA1):c.4223A>G (p.Gln1408Arg) rs1555584227
NM_007294.4(BRCA1):c.5441C>A (p.Ala1814Asp) rs1398117278
NM_007294.4(BRCA1):c.796G>T (p.Val266Phe)

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